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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: Myoclonic Epilepsies, Progressive (D020191)
Parent Node: Spinal Muscular Atrophies of Childhood (D014897)
..Starting node ..SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Child Nodes:
Sister Nodes:
..Amyotrophy, monomelic (C538253)
..Hamano Tsukamoto syndrome (C535625)
..SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
..SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
..Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant (C563560)
..Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (C567023)
..Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (C564805)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11534

Name:

SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY

Definition:

Alternative IDs:

ParentIDs:

MESH:D014897|MESH:D020191

TreeNumbers:

C10.228.140.490.375.130.650/159950 |C10.228.140.490.493.063.650/159950 |C10.228.854.468.800/159950 |C10.574.500.812/159950 |C10.574.562.500.750/159950 |C10.668.467.500.750/159950 |C16.320.400.765/159950

Synonyms:

MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY |SMAPME

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: 159950
MeSH: 159950
OMIM: 159950;
MSeqDR :
Genes: ASAH1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003621	Juvenile onset
4	HP:0001284	Areflexia
5	HP:0002398	Degeneration of anterior horn cells
6	HP:0000726	Dementia NAMDC: Dementia
7	HP:0002355	Difficulty walking
8	HP:0010628	Facial palsy
9	HP:0002359	Frequent falls
10	HP:0002123	Generalized myoclonic seizures
11	HP:0003391	Gowers sign
12	HP:0001336	Myoclonus NAMDC: Myoclonus
13	HP:0200136	Oral-pharyngeal dysphagia
14	HP:0003676	Progressive
15	HP:0008955	Progressive distal muscular atrophy
16	HP:0002205	Recurrent respiratory infections
17	HP:0002747	Respiratory insufficiency due to muscle weakness
18	HP:0002650	Scoliosis
19	HP:0007269	Spinal muscular atrophy
20	HP:0001308	Tongue fasciculations
21	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000008.11:g.(?_18051554)_(18107050_?)del	427	ASAH1	Pathogenic	-1	RCV000029200;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17909063	17964559		OMIM:613468.0007	C1834569 159950 Jankovic Rivera syndrome;
NM_177924.5(ASAH1):c.*124T>A	427	ASAH1	Benign	rs417661	RCV000306492\|RCV001554174\|RCV001675879;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17914919	17914919	NC_000008.10:g.17914919A>T	ClinGen:CA10625097	C0268255 228000 Farber disease;
NM_177924.5(ASAH1):c.*103G>A	427	ASAH1	Uncertain significance	rs181616268	RCV001163631\|RCV002505743;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17914940	17914940	8:g.17914940C>T	-
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly)	427	ASAH1	Uncertain significance	-1	RCV001967554\|RCV002491986;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17915062	17915062	17915062	-
NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)	427	ASAH1	Likely pathogenic	-1	RCV002289101;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17915074	17915074	17915074	-
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys)	427	ASAH1	Uncertain significance	rs148976489	RCV001163940\|RCV001338988\|RCV002480573;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17915087	17915087	8:g.17915087C>T	-
NM_177924.5(ASAH1):c.1098+120T>G	427	ASAH1	Benign	rs420610	RCV000837623\|RCV001553843\|RCV001554175;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17916224	17916224	8:g.17916224A>C	-
NM_177924.5(ASAH1):c.1041+19C>A	427	ASAH1	Benign/Likely benign	-1	RCV001585149\|RCV002506691;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17916831	17916831	17916831	-
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)	427	ASAH1	Pathogenic	rs771847002	RCV001003338\|RCV001544563;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17917112	17917112	8:g.17917112G>A	-
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)	427	ASAH1	Pathogenic	rs794729663	RCV000157604;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17917148	17917148	8:g.17917148C>A	ClinGen:CA185927,OMIM:613468.0010	C1834569 159950 Jankovic Rivera syndrome;
NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys)	427	ASAH1	Uncertain significance	-1	RCV001922542\|RCV002482757;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17918887	17918887	17918887	-
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala)	427	ASAH1	Benign	rs10103355	RCV000245912\|RCV000310101\|RCV000675803\|RCV001553844\|RCV002500901;	N	MedGen:CN169374\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,	8	17918934	17918934	NC_000008.10:g.17918934A>G	ClinGen:CA4650694	C0268255 228000 Farber disease;
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu)	427	ASAH1	Uncertain significance	rs374187681	RCV001160352\|RCV001343987\|RCV002483908;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17918953	17918953	8:g.17918953T>G	-
NM_177924.5(ASAH1):c.704-19T>C	427	ASAH1	Benign	rs17515291	RCV000242736\|RCV000675804\|RCV001553846\|RCV001553845;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17918986	17918986	NC_000008.10:g.17918986A>G	ClinGen:CA4650704	CN517202 not provided;
NM_177924.5(ASAH1):c.667C>T (p.Leu223=)	427	ASAH1	Likely benign	-1	RCV002075683\|RCV002494174;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17919231	17919231	17919231	-
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)	427	ASAH1	Uncertain significance	rs150268016	RCV000332641\|RCV000656012\|RCV000853063\|RCV000709958\|RCV002523651;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945\|MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MeS	8	17919816	17919816	NC_000008.10:g.17919816T>A	ClinGen:CA4650766
NM_177924.5(ASAH1):c.594_599dup (p.Phe199_Lys200insAsnPhe)	427	ASAH1	Pathogenic	rs1588978684	RCV001003310;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17919836	17919837	8:g.17919836_17919837insTTGAAG	-
NM_177924.5(ASAH1):c.556A>G (p.Thr186Ala)	427	ASAH1	Uncertain significance	rs368212646	RCV001333664\|RCV002546643;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17919880	17919880	17919880	-
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)	427	ASAH1	Conflicting interpretations of pathogenicity	rs766257867	RCV000679928;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17919900	17919900	8:g.17919900G>A	-	C1834569 159950 Jankovic Rivera syndrome;
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)	427	ASAH1	Pathogenic	rs1588978873	RCV001003309;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17919918	17919918	8:g.17919918T>A	-
NM_177924.5(ASAH1):c.503+127G>A	427	ASAH1	Benign	-1	RCV001540868\|RCV001553847\|RCV001553848;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17920567	17920567	17920567	-
NM_177924.5(ASAH1):c.503+71G>A	427	ASAH1	Benign	-1	RCV001553849\|RCV001553850\|RCV001647425;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17920623	17920623	17920623	-
NM_177924.5(ASAH1):c.458-68T>C	427	ASAH1	Benign	rs7824644	RCV000837758\|RCV001553852\|RCV001553851;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17920807	17920807	8:g.17920807A>G	-
NM_177924.5(ASAH1):c.458-81T>A	427	ASAH1	Benign	-1	RCV001553854\|RCV001553853\|RCV001615303;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202	8	17920820	17920820	17920820	-
NM_177924.5(ASAH1):c.457+45A>G	427	ASAH1	Benign	rs2073574	RCV000250121\|RCV000837756\|RCV001553856\|RCV001553855;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17921921	17921921	NC_000008.10:g.17921921T>C	ClinGen:CA4650835	CN169374 not specified;
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	427	ASAH1	Pathogenic/Likely pathogenic	rs200455852	RCV000157605\|RCV000853058;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17921967	17921967	8:g.17921967T>G	ClinGen:CA185930,UniProtKB:Q13510#VAR_072247,OMIM:613468.0011	C1834569 159950 Jankovic Rivera syndrome;
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)	427	ASAH1	Pathogenic/Likely pathogenic	rs371666412	RCV000416939\|RCV001861470\|RCV002502451;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17922013	17922013	NC_000008.10:g.17922013T>C	ClinGen:CA4650862	C1834569 159950 Jankovic Rivera syndrome;
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr)	427	ASAH1	Uncertain significance	rs199785411	RCV000487856\|RCV001270068\|RCV002489187;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17924735	17924735	8:g.17924735G>T	ClinGen:CA4650897	CN517202 not provided;
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala)	427	ASAH1	Uncertain significance	-1	RCV001886719\|RCV002503501;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17924803	17924803	17924803	-
NM_177924.5(ASAH1):c.304-42G>A	427	ASAH1	Benign	rs12675283	RCV000245358\|RCV001553857\|RCV001554030\|RCV001651182;	N	MedGen:CN169374\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17924849	17924849	8:g.17924849C>T	ClinGen:CA4650920	CN169374 not specified;
NM_177924.5(ASAH1):c.303+117T>C	427	ASAH1	Benign	rs2427746	RCV000837604\|RCV001554031\|RCV001554032;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17927184	17927184	8:g.17927184A>G	-
NM_177924.5(ASAH1):c.303+53T>G	427	ASAH1	Benign	rs4921567	RCV000837603\|RCV001554033\|RCV001554034;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17927248	17927248	8:g.17927248A>C	-
NM_177924.5(ASAH1):c.303+21C>A	427	ASAH1	Benign	rs2106037	RCV000675806\|RCV001554035\|RCV001554036;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17927280	17927280	NC_000008.10:g.17927280G>T	-	CN517202 not provided;
NM_177924.5(ASAH1):c.303+7G>A	427	ASAH1	Benign	rs4921834	RCV000178403\|RCV000321995\|RCV000675807\|RCV001554037;	N	MedGen:CN169374\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17927294	17927294	8:g.17927294C>T	ClinGen:CA202850	C0268255 228000 Farber disease;
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val)	427	ASAH1	Benign	rs1049874	RCV000178404\|RCV000378864\|RCV000675808\|RCV001554038;	N	MedGen:CN169374\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17927327	17927327	8:g.17927327T>C	ClinGen:CA202851	C0268255 228000 Farber disease;
NM_177924.5(ASAH1):c.223_224insC (p.Val75fs)	427	ASAH1	Pathogenic	rs1588990194	RCV001003330;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17927380	17927381	8:g.17927380_17927381insG	-
NM_177924.5(ASAH1):c.214G>A (p.Val72Met)	427	ASAH1	Benign	rs1071645	RCV000253040\|RCV000343910\|RCV000675810\|RCV001554039;	N	MedGen:CN169374\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17928811	17928811	NC_000008.10:g.17928811C>T	ClinGen:CA4650981	C0268255 228000 Farber disease;
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)	427	ASAH1	Pathogenic/Likely pathogenic	-1	RCV001780646\|RCV002482308;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590; MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333	8	17928839	17928839	17928839	-
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)	427	ASAH1	Likely pathogenic	rs766395283	RCV001003298;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17928848	17928848	8:g.17928848G>C	-
NM_177924.5(ASAH1):c.126-21A>G	427	ASAH1	Benign	rs12547845	RCV000248257\|RCV000675811\|RCV001554040\|RCV001554041;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17928920	17928920	8:g.17928920T>C	ClinGen:CA4651015	CN517202 not provided;
NM_177924.5(ASAH1):c.126-100C>T	427	ASAH1	Benign	rs12549594	RCV000837599\|RCV001554042\|RCV001554112;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17928999	17928999	8:g.17928999G>A	-
NM_177924.5(ASAH1):c.126-1873G>A	427	ASAH1	Benign	rs3753115	RCV000454518\|RCV000837595\|RCV001554113\|RCV001554114;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17930772	17930772	NC_000008.10:g.17930772C>T	ClinGen:CA4651042	CN169374 not specified;
NM_177924.5(ASAH1):c.125+1G>A	427	ASAH1	Pathogenic	rs1588999312	RCV000820153\|RCV001003311;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17933049	17933049	8:g.17933049C>T	-
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	427	ASAH1	Pathogenic/Likely pathogenic	rs145873635	RCV000029199\|RCV000724837\|RCV001270895;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202\|	8	17933050	17933050	8:g.17933050G>A	ClinGen:CA129940,OMIM:613468.0006	C1834569 159950 Jankovic Rivera syndrome;
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)	427	ASAH1	Conflicting interpretations of pathogenicity	rs779888892	RCV000679927\|RCV002531407;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17933051	17933051	8:g.17933051T>C	-	C1834569 159950 Jankovic Rivera syndrome;
NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg)	427	ASAH1	Conflicting interpretations of pathogenicity	rs1800367831	RCV001095795\|RCV001856297;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17933057	17933057	8:g.17933057C>G	-
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr)	427	ASAH1	Uncertain significance	rs200758704	RCV000710618\|RCV001164024\|RCV002485785;	N	MedGen:CN517202\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17933087	17933087	NC_000008.10:g.17933087C>A	-
NM_177924.5(ASAH1):c.79-3C>T	427	ASAH1	Benign	rs35513736	RCV000254136\|RCV000347182\|RCV000675812\|RCV001554115;	N	MedGen:CN169374\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17933099	17933099	8:g.17933099G>A	ClinGen:CA4651087	C0268255 228000 Farber disease;
NM_177924.5(ASAH1):c.79-50G>A	427	ASAH1	Benign	rs34482943	RCV000243501\|RCV001554116\|RCV001554117\|RCV001689843;	N	MedGen:CN169374\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MedGen:CN517202	8	17933146	17933146	8:g.17933146C>T	ClinGen:CA4651096	CN169374 not specified;
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)	427	ASAH1	Pathogenic	rs886039750	RCV001003312;	N	MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17941491	17941491	8:g.17941491G>C	-
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)	427	ASAH1	Pathogenic/Likely pathogenic	-1	RCV001507724\|RCV001647301\|RCV002506589;	N	MedGen:CN517202\|MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17941565	17941565	17941565	-
NM_177924.5(ASAH1):c.-219A>T	427	ASAH1	Uncertain significance	rs539981182	RCV000319968\|RCV002504186;	N	MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333\|MONDO:MONDO:0009218,MedGen:C0268255,OMIM:228000, Orphanet:333; MONDO:MONDO:0008045,MedGen:C1834569,OMIM:159950, Orphanet:2590	8	17941786	17941786	8:g.17941786T>A	ClinGen:CA10630596	C0268255 228000 Farber disease;

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