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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Microcephaly (D008831)
Parent Node: Psychomotor Disorders (D011596)
..Starting node ..ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Child Nodes:
Sister Nodes:
..AL-RAQAD SYNDROME (OMIM:616459)
..ALAZAMI-YUAN SYNDROME (OMIM:617126)
..Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation (C000598722)
..Apraxias (D001072) 10
..ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
..BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..Bowen-Conradi syndrome (C537081)
..C SYNDROME (OMIM:211750)
..CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
..CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Diaminopentanuria (C565630)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Edinburgh Malformation Syndrome (C563051)
..Fumaric aciduria (C538191)
..Genitopatellar Syndrome (C565255)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..HAREL-YOON SYNDROME (OMIM:617183)
..HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559) L: 00108;
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..MacDermot Winter syndrome (C537714)
..MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
..Megarbane syndrome (C536145)
..MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741) L: 00041;
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..OGDEN SYNDROME (OMIM:300855)
..OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Psychomotor Agitation (D011595) 1
..THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..VERHEIJ SYNDROME (OMIM:615583)
..ZTTK SYNDROME (OMIM:617140)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

988

Name:

ASPARAGINE SYNTHETASE DEFICIENCY

Definition:

Alternative IDs:

ParentIDs:

MESH:D008831|MESH:D011596|MESH:D020739

TreeNumbers:

C05.660.207.620/615574 |C10.228.140.163.100/615574 |C10.500.507.400.500/615574 |C10.597.606.881/615574 |C16.131.621.207.620/615574 |C16.131.666.507.400.500/615574 |C16.320.565.189/615574 |C18.452.132.100/615574 |C18.452.648.189/615574 |C23.888.592.604.882/615574

Synonyms:

ASNSD |ASNS DEFICIENCY

Slim Mappings:

Reference:

MedGen: 615574
MeSH: 615574
OMIM: 615574;
MSeqDR :
Genes: ASNS; ATM;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001321	Cerebellar hypoplasia
3	HP:0002539	Cortical dysplasia
4	HP:0009879	Cortical gyral simplification
5	HP:0100704	Cortical visual impairment
6	HP:0012448	Delayed myelination
7	HP:0001298	Encephalopathy NAMDC: Encephalopathy (At least one neurological manifestation marked with an *)
8	HP:0002267	Exaggerated startle response
9	HP:0001508	Failure to thrive
10	HP:0011968	Feeding difficulties
11	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
12	HP:0002079	Hypoplasia of the corpus callosum
13	HP:0012110	Hypoplasia of the pons
14	HP:0002521	Hypsarrhythmia
15	HP:0001176	Large hands
16	HP:0001833	Long foot
17	HP:0000400	Macrotia
18	HP:0000347	Micrognathia
19	HP:0008936	Muscular hypotonia of the trunk
20	HP:0012736	Profound global developmental delay
21	HP:0003676	Progressive
22	HP:0000253	Progressive microcephaly
23	HP:0002093	Respiratory insufficiency
24	HP:0001250	Seizures NAMDC: Seizures
25	HP:0000340	Sloping forehead
26	HP:0002510	Spastic tetraplegia
27	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001673.5(ASNS):c.1674T>C (p.Ala558=)	440	ASNS	Likely benign	760440838	RCV001410929\|RCV001831454;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481583	97481583	97481583	-
NM_001673.5(ASNS):c.1649G>A (p.Arg550His)	440	ASNS	Pathogenic/Likely pathogenic	552452349	RCV000984516\|RCV001266470\|RCV001869324;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	7	97481608	97481608	7:g.97481608C>T	-
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys)	440	ASNS	Pathogenic/Likely pathogenic	398122974	RCV000077749\|RCV001064729;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97481609	97481609	7:g.97481609G>A	ClinVar:424734,ClinGen:CA331775,UniProtKB:P08243#VAR_070898,OMIM:108370.0002	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.1628A>G (p.Asn543Ser)	440	ASNS	Uncertain significance	751735389	RCV001581911\|RCV001832809;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481629	97481629	97481629	-
NM_001673.5(ASNS):c.1626C>T (p.Ile542=)	440	ASNS	Likely benign	1584455597	RCV000980751\|RCV001827104;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481631	97481631	7:g.97481631G>A	-
NM_001673.5(ASNS):c.1616C>T (p.Pro539Leu)	440	ASNS	Uncertain significance	1182799813	RCV000523786\|RCV001272106;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481641	97481641	7:g.97481641G>A	ClinGen:CA368264085	CN169374 not specified;
NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu)	440	ASNS	Conflicting interpretations of pathogenicity	201432154	RCV001584719\|RCV001827517;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481664	97481664	97481664	-
NM_001673.5(ASNS):c.1587G>A (p.Arg529=)	440	ASNS	Benign/Likely benign	140975053	RCV000903526\|RCV001272334\|RCV001818768;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN169374	7	97481670	97481670	7:g.97481670C>T	-
NM_001673.5(ASNS):c.1578C>A (p.Tyr526Ter)	440	ASNS	Likely pathogenic	-1	RCV002510370;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481679	97481679	NC_000007.13:g.97481679G>T	-
NM_001673.5(ASNS):c.1570C>A (p.Arg524Ser)	440	ASNS	Uncertain significance	373078034	RCV001279376;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481687	97481687	7:g.97481687G>T	-
NM_001673.5(ASNS):c.1555C>T (p.Arg519Cys)	440	ASNS	Uncertain significance	1251417315	RCV000998853\|RCV003313000;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97481702	97481702	7:g.97481702G>A	-
NM_001673.5(ASNS):c.1477-32G>A	440	ASNS	Benign	10486011	RCV001543861\|RCV001615268;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97481812	97481812	97481812	-
NM_001673.5(ASNS):c.1476+1G>A	440	ASNS	Pathogenic	1791258447	RCV001090001;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97482371	97482371	7:g.97482371C>T	COSMIC:51551779
NM_001673.5(ASNS):c.1465G>A (p.Val489Ile)	440	ASNS	Uncertain significance	772079299	RCV000513830\|RCV000764739;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97482383	97482383	7:g.97482383C>T	ClinGen:CA4354500	CN517202 not provided;
NM_001673.5(ASNS):c.1439C>T (p.Ser480Phe)	440	ASNS	Conflicting interpretations of pathogenicity	754043007	RCV000478550\|RCV001264715\|RCV001262724;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0012759,MedGen:C4022737\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97482409	97482409	NC_000007.13:g.97482409G>A	ClinVar:424734,ClinGen:CA055856	CN517202 not provided;
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)	440	ASNS	Pathogenic/Likely pathogenic	373774032	RCV001037423\|RCV001255830\|RCV002552476;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MeSH:D030342,MedGen:C0950123	7	97482455	97482455	7:g.97482455G>A	-
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)	440	ASNS	Conflicting interpretations of pathogenicity	61733327	RCV001818773\|RCV001272335\|RCV000904569;	N	MedGen:CN169374\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97482484	97482484	7:g.97482484G>A	-
NM_001673.5(ASNS):c.1320+1G>C	440	ASNS	Likely pathogenic	1791277284	RCV001044978\|RCV001267151\|RCV002489588;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97482616	97482616	7:g.97482616C>G	-
NM_001673.5(ASNS):c.1304A>C (p.Glu435Ala)	440	ASNS	Uncertain significance	777272935	RCV001552074\|RCV001832753;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97482633	97482633	97482633	-
NM_001673.5(ASNS):c.1283del (p.Tyr428fs)	440	ASNS	Likely pathogenic	-1	RCV003226880;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97482654	97482654		-
NM_001673.5(ASNS):c.1238+142G>C	440	ASNS	Benign/Likely benign	17279084	RCV001543862\|RCV001720310;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97483750	97483750	97483750	-
NM_001673.5(ASNS):c.1237_1238+5del	440	ASNS	Likely pathogenic	-1	RCV003130394;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483887	97483893	NC_000007.13:g.97483889_97483895del	-
NM_001673.5(ASNS):c.1235A>G (p.His412Arg)	440	ASNS	Uncertain significance	201394816	RCV002224626\|RCV002227581;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483895	97483895	97483895	-
NM_001673.5(ASNS):c.1213G>A (p.Ala405Thr)	440	ASNS	Conflicting interpretations of pathogenicity	749406391	RCV000987932\|RCV002549693;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97483917	97483917	7:g.97483917C>T	-
NM_001673.5(ASNS):c.1211G>A (p.Arg404His)	440	ASNS	Likely pathogenic	774808316	RCV001806244\|RCV001873825;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97483919	97483919	97483919	-
NM_001673.5(ASNS):c.1209_1211delinsGCA (p.Arg404His)	440	ASNS	Pathogenic	-1	RCV003324266;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483919	97483921		-
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys)	440	ASNS	Conflicting interpretations of pathogenicity	375234125	RCV001961392\|RCV002227572;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483920	97483920	97483920	-
NM_001673.5(ASNS):c.1209C>G (p.Leu403=)	440	ASNS	Benign	1049677	RCV001519918\|RCV001832707;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483921	97483921	97483921	-
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs)	440	ASNS	Pathogenic/Likely pathogenic	773348232	RCV000428101\|RCV001833514;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483937	97483938	7:g.97483937_97483938insA	ClinGen:CA4354572	CN517202 not provided;
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)	440	ASNS	Pathogenic/Likely pathogenic	1166271142	RCV000985226\|RCV001858616;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97483937	97483937	7:g.97483937T>C	-
NM_001673.5(ASNS):c.1174_1175dup (p.Leu393fs)	440	ASNS	Likely pathogenic	-1	RCV003226881;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483954	97483955		-
NM_001673.5(ASNS):c.1175G>A (p.Arg392Lys)	440	ASNS	Uncertain significance	199817844	RCV001556633\|RCV001827467;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483955	97483955	97483955	-
NM_001673.5(ASNS):c.1165G>C (p.Glu389Gln)	440	ASNS	Likely pathogenic	948326794	RCV000656456;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483965	97483965	NC_000007.13:g.97483965C>G	-	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.1165G>T (p.Glu389Ter)	440	ASNS	Pathogenic/Likely pathogenic	948326794	RCV001217578\|RCV003155373;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483965	97483965	7:g.97483965C>A	-
NM_001673.5(ASNS):c.1164G>A (p.Glu388=)	440	ASNS	Benign/Likely benign	200290689	RCV000977006\|RCV001832237;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483966	97483966	7:g.97483966C>T	-
NM_001673.5(ASNS):c.1160A>G (p.Glu387Gly)	440	ASNS	Likely pathogenic	1584458744	RCV000985208;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483970	97483970	7:g.97483970T>C	-
NM_001673.5(ASNS):c.1159G>A (p.Glu387Lys)	440	ASNS	Uncertain significance	761319175	RCV001589627\|RCV002569122\|RCV001827522;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97483971	97483971	97483971	-
NM_001673.5(ASNS):c.1138G>T (p.Ala380Ser)	440	ASNS	Uncertain significance	758183057	RCV000787476\|RCV003235394;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN169374	7	97483992	97483992	7:g.97483992C>A	OMIM:108370.0007
NM_001673.5(ASNS):c.1138-8T>C	440	ASNS	Conflicting interpretations of pathogenicity	2115608872	RCV002072379\|RCV002076657;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97484000	97484000	97484000	-
NM_001673.5(ASNS):c.1137+200_1137+205del	440	ASNS	Likely pathogenic	-1	RCV003226043;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97484460	97484465		-
NM_001673.5(ASNS):c.1137+1G>A	440	ASNS	Pathogenic	1791383191	RCV001283833;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97484664	97484664	97484664	-
NM_001673.5(ASNS):c.1112C>T (p.Thr371Met)	440	ASNS	Uncertain significance	753908207	RCV001332859\|RCV001859301;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97484690	97484690	97484690	-
NM_001673.5(ASNS):c.1097G>A (p.Gly366Glu)	440	ASNS	Pathogenic	1584459666	RCV000787474;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97484705	97484705	7:g.97484705C>T	OMIM:108370.0005
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)	440	ASNS	Pathogenic/Likely pathogenic	398122973	RCV000077748\|RCV000812578;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97484718	97484718	NC_000007.13:g.97484718A>C	UniProtKB:P08243#VAR_070897,OMIM:108370.0001,ClinGen:CA145467	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.1059del (p.Lys354fs)	440	ASNS	Likely pathogenic	2115616730	RCV001780647;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97484743	97484743	97484742	-
NM_001673.5(ASNS):c.1058G>A (p.Arg353Gln)	440	ASNS	Uncertain significance	377342766	RCV001559204\|RCV002569005;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97484744	97484744	97484744	-
NM_001673.5(ASNS):c.1049A>G (p.Lys350Arg)	440	ASNS	Uncertain significance	1791391363	RCV001808244;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97484753	97484753	97484753	-
NM_001673.5(ASNS):c.1031G>T (p.Gly344Val)	440	ASNS	Uncertain significance	543997525	RCV001202781\|RCV001833783;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97484771	97484771	7:g.97484771C>A	-
NM_001673.5(ASNS):c.1030+1G>A	440	ASNS	Likely pathogenic	780288372	RCV000503815;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97486001	97486001	NC_000007.13:g.97486001C>T	ClinGen:CA4354631	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.1019G>A (p.Arg340His)	440	ASNS	Conflicting interpretations of pathogenicity	1360484422	RCV000787473\|RCV001869187;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97486013	97486013	7:g.97486013C>T	OMIM:108370.0004
NM_001673.5(ASNS):c.883G>A (p.Asp295Asn)	440	ASNS	Conflicting interpretations of pathogenicity	781581679	RCV000987933\|RCV002550606;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97487610	97487610	7:g.97487610C>T	-
NM_001673.5(ASNS):c.868A>G (p.Met290Val)	440	ASNS	Uncertain significance	146656175	RCV001596619\|RCV001832825\|RCV002579505;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MeSH:D030342,MedGen:C0950123	7	97487625	97487625	97487625	-
NM_001673.5(ASNS):c.776-5T>G	440	ASNS	Pathogenic	-1	RCV002284991;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97487722	97487722	97487722	-
NM_001673.5(ASNS):c.776-13C>T	440	ASNS	Benign	41278830	RCV001513415\|RCV001543863;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97487730	97487730	97487730	-
NM_001673.5(ASNS):c.750_753del (p.Asp250fs)	440	ASNS	Pathogenic/Likely pathogenic	2115654584	RCV002047624\|RCV002282616;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488188	97488191	97488187	-
NM_001673.5(ASNS):c.728T>C (p.Val243Ala)	440	ASNS	Conflicting interpretations of pathogenicity	148111963	RCV000440696\|RCV000787475;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488213	97488213	NC_000007.13:g.97488213A>G	ClinGen:CA4354708,OMIM:108370.0006	CN517202 not provided;
NM_001673.5(ASNS):c.706del (p.Arg236fs)	440	ASNS	Pathogenic/Likely pathogenic	1791584683	RCV001942918\|RCV003225983;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488235	97488235	97488234	-
NM_001673.5(ASNS):c.674-83T>C	440	ASNS	Benign	11773753	RCV001543898\|RCV001685479;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97488350	97488350	97488350	-
NM_001673.5(ASNS):c.673+3A>G	440	ASNS	Uncertain significance	-1	RCV003223260\|RCV003322645;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488522	97488522		-
NM_001673.5(ASNS):c.666_667del (p.Phe223fs)	440	ASNS	Likely pathogenic	750420071	RCV001265595;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488531	97488532	7:g.97488531_97488532del	-
NM_001673.5(ASNS):c.629T>A (p.Val210Glu)	440	ASNS	Benign	1049674	RCV000826772\|RCV000987934;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488569	97488569	7:g.97488569A>T	-
NM_001673.5(ASNS):c.622C>T (p.Arg208Trp)	440	ASNS	Uncertain significance	1265117805	RCV001588617\|RCV001836465;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488576	97488576	97488576	-
NM_001673.5(ASNS):c.613C>T (p.His205Tyr)	440	ASNS	Uncertain significance	1258978380	RCV001279377;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488585	97488585	7:g.97488585G>A	-
NM_001673.5(ASNS):c.601del (p.Met201fs)	440	ASNS	Pathogenic	1481539409	RCV000656457;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488597	97488597	7:g.97488597_97488597del	-	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.594C>T (p.Ser198=)	440	ASNS	Likely benign	527301530	RCV000980755\|RCV001279378;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488604	97488604	7:g.97488604G>A	-
NM_001673.5(ASNS):c.591A>C (p.Ala197=)	440	ASNS	Benign	141969298	RCV000879165\|RCV001272336;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488607	97488607	7:g.97488607T>G	-
NM_001673.5(ASNS):c.569T>G (p.Leu190Ter)	440	ASNS	Pathogenic	1562817048	RCV000761483;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488629	97488629	NC_000007.13:g.97488629A>C	-
NM_001673.5(ASNS):c.540del (p.Leu181fs)	440	ASNS	Pathogenic/Likely pathogenic	866033169	RCV001950561\|RCV002307802;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488658	97488658	97488657	-
NM_001673.5(ASNS):c.513G>A (p.Ala171=)	440	ASNS	Likely benign	755945639	RCV000941603\|RCV001832158;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97488685	97488685	7:g.97488685C>T	-
NM_001673.5(ASNS):c.488-23A>G	440	ASNS	Benign	7797354	RCV001543899\|RCV001597302;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97488733	97488733	97488733	-
NM_001673.5(ASNS):c.484A>G (p.Lys162Glu)	440	ASNS	Uncertain significance	2115707912	RCV002227854;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97493574	97493574	97493574	-
NM_001673.5(ASNS):c.478del (p.Glu160fs)	440	ASNS	Pathogenic	797045307	RCV000193384\|RCV000423550;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97493580	97493580	NC_000007.13:g.97493580delC	ClinGen:CA206838	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.437T>C (p.Phe146Ser)	440	ASNS	Uncertain significance	1476175517	RCV001255847\|RCV001879944\|RCV002265967;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202\|MedGen:CN169374	7	97493621	97493621	7:g.97493621A>G	-
NM_001673.5(ASNS):c.413A>T (p.Asp138Val)	440	ASNS	Conflicting interpretations of pathogenicity	797045306	RCV000194969\|RCV001857687;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97493645	97493645	NC_000007.13:g.97493645T>A	ClinGen:CA209491	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.413A>C (p.Asp138Ala)	440	ASNS	Likely pathogenic	797045306	RCV001806448;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97493645	97493645	97493645	-
NM_001673.5(ASNS):c.353A>G (p.Asp118Gly)	440	ASNS	Uncertain significance	-1	RCV003313715;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97493705	97493705		-
NM_001673.5(ASNS):c.288G>A (p.Val96=)	440	ASNS	Benign/Likely benign	554805942	RCV001514603\|RCV001832695;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97493770	97493770	97493770	-
NM_001673.5(ASNS):c.277C>T (p.Gln93Ter)	440	ASNS	Pathogenic/Likely pathogenic	757729851	RCV001223599\|RCV002497763;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97493781	97493781	7:g.97493781G>A	-
NM_001673.5(ASNS):c.250-10G>A	440	ASNS	Likely benign	202126429	RCV000905643\|RCV001272337;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97493818	97493818	7:g.97493818C>T	-
NM_001673.5(ASNS):c.224A>T (p.Asn75Ile)	440	ASNS	Uncertain significance	747624770	RCV001330620;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498245	97498245	97498245	-
NM_001673.5(ASNS):c.224A>G (p.Asn75Ser)	440	ASNS	Pathogenic/Likely pathogenic	747624770	RCV001806449\|RCV002542420;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:C3661900	7	97498245	97498245	97498245	-
NM_001673.5(ASNS):c.213G>A (p.Trp71Ter)	440	ASNS	Pathogenic	-1	RCV002288413;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498256	97498256	97498256	-
NM_001673.5(ASNS):c.203C>T (p.Pro68Leu)	440	ASNS	Uncertain significance	774187768	RCV000785907\|RCV002536881;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97498266	97498266	7:g.97498266G>A	-
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr)	440	ASNS	Likely pathogenic	1554350554	RCV000625792;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498267	97498267	7:g.97498267G>T	ClinGen:CA368273885	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.164C>T (p.Pro55Leu)	440	ASNS	Uncertain significance	-1	RCV003064836\|RCV003138481;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498305	97498305	NC_000007.13:g.97498305G>A	-
NM_001673.5(ASNS):c.153G>A (p.Ala51=)	440	ASNS	Likely benign	143288271	RCV000922307\|RCV001272338;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498316	97498316	7:g.97498316C>T	-
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln)	440	ASNS	Conflicting interpretations of pathogenicity	769236847	RCV000432896\|RCV000714524\|RCV002274029;	N	MedGen:CN517202\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|Human Phenotype Ontology:HP:0012758,MedGen:C4022738	7	97498323	97498323	7:g.97498323C>T	ClinGen:CA4354841,OMIM:108370.0008	CN517202 not provided;
NM_001673.5(ASNS):c.119A>G (p.Tyr40Cys)	440	ASNS	Likely pathogenic	1792120689	RCV001255764;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498350	97498350	7:g.97498350T>C	-
NM_001673.5(ASNS):c.97C>T (p.Arg33Cys)	440	ASNS	Pathogenic/Likely pathogenic	759224338	RCV000499795\|RCV002244973;	N	MedGen:CN169374\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498372	97498372	NC_000007.13:g.97498372G>A	ClinGen:CA4354846	CN169374 not specified;
NM_001673.5(ASNS):c.91G>T (p.Ala31Ser)	440	ASNS	Uncertain significance	1461068861	RCV001593672\|RCV001827527;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498378	97498378	97498378	-
NM_001673.5(ASNS):c.29G>A (p.Ser10Asn)	440	ASNS	Uncertain significance	1562823595	RCV000785163;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498440	97498440	7:g.97498440C>T	-
NM_001673.5(ASNS):c.18G>A (p.Ala6=)	440	ASNS	Benign	76996735	RCV000951094\|RCV001272107;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498451	97498451	7:g.97498451C>T	-
NM_001673.5(ASNS):c.17C>A (p.Ala6Glu)	440	ASNS	Pathogenic/Likely pathogenic	398122975	RCV000077750\|RCV000414383;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376\|MedGen:CN517202	7	97498452	97498452	7:g.97498452G>T	ClinGen:CA145469,UniProtKB:P08243#VAR_070896,OMIM:108370.0003	C3809971 615574 Asparagine synthetase deficiency;
NM_001673.5(ASNS):c.7G>A (p.Gly3Ser)	440	ASNS	Uncertain significance	2115755612	RCV001807935;	N	MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498462	97498462	97498462	-
NM_001673.5(ASNS):c.1A>G (p.Met1Val)	440	ASNS	Likely pathogenic	2115755676	RCV001377687\|RCV001826128;	N	MedGen:C3661900\|MONDO:MONDO:0014258,MedGen:C3809971,OMIM:615574, Orphanet:391376	7	97498468	97498468	97498468	-

MSeqDR Portal

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