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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, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (MONDO:0016793)
Parent Node: postlingual non-syndromic genetic deafness (MONDO:0016298)
..Starting node ..mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure ()
Child Nodes:
Sister Nodes:
..autosomal dominant nonsyndromic deafness ()
..autosomal recessive nonsyndromic deafness ()
..mitochondrial non-syndromic sensorineural deafness () L: 00159;
..mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure () L: 00051;
..X-linked nonsyndromic deafness ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10799

Name:

mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

Definition:

Alternative IDs:

580000

ParentIDs:

TreeNumbers:

Synonyms:

deafness, aminoglycoside-induced; deafness, streptomycin-induced; mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure; mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure; mitochondrial isolated sensorineural deafnes

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 580000;
MSeqDR : 00051;
Genes: TRMU;

Phenotypes

1	HP:0001427	Mitochondrial inheritance
2	HP:0011975	Aminoglycoside-induced hearing loss

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_012920.1:m.7444G>A	-1	MT-CO1;MT-TS1	Likely benign	199474822	RCV000010299\|RCV000010301\|RCV000010300\|RCV000854073\|RCV001268422\|RCV003319164;	Y	Human Phenotype Ontology:HP:0001086,Human Phenotype Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000, Orphanet:104\|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:	M	7444	7444	M:g.7444G>A	ClinGen:CA254851,OMIM:516030.0001,OMIM:590080.0006	C1838854 580000 Aminoglycoside-induced deafness;
NC_012920.1:m.1555A>G	-1	MT-ND1;MT-RNR1	Pathogenic; drug response	267606617	RCV000010254\|RCV000010255\|RCV000010256\|RCV000224935\|RCV000505667\|RCV000722074\|RCV000844677\|RCV001787321\|RCV001787378\|RCV001787374\|RCV001787376\|RCV001787375\|RCV001787377\|RCV003153300\|RCV003445067;	Y	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641\|Human Phenotype Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196, Orphanet:217632\|MedGen:C3661900\|MONDO:MON	M	1555	1555	m.1555A>G	ClinGen:CA120590,OMIM:561000.0001	CN236464 aminoglycoside antibacterials response - Toxicity/ADR;
m.961delTinsC(2_7)	4549	MT-RNR1	Pathogenic	1556422499	RCV000010257;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	M	961	961	m.961delTinsC(2_7)	OMIM:561000.0002	C1838854 580000 Aminoglycoside-induced deafness;
NC_012920.1:m.827A>G	4549	MT-RNR1	drug response	28358569	RCV000010265\|RCV000010266\|RCV000722076;	Y	MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MedGen:CN184225	M	827	827	M:g.827A>G	ClinGen:CA254848,OMIM:561000.0007	C1838854 580000 Aminoglycoside-induced deafness;
m.1095T>C	4549	MT-RNR1	drug response	267606618	RCV000010259\|RCV000010260\|RCV000010261\|RCV000035031\|RCV001787379\|RCV001787380\|RCV001787381\|RCV001787382;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641\|MONDO:MONDO:0021944,MedGen:C1852271,OMIM:PS609129\|MedGen:CN169374\|\|\|\|	M	1095	1095	M:g.1095T>C	ClinGen:CA120591,OMIM:561000.0003	CN236464 aminoglycoside antibacterials response - Toxicity/ADR;
NC_012920.1:m.1494C>T	-1	MT-RNR1;MT-TS1	Likely pathogenic; drug response	267606619	RCV000010262\|RCV000010263\|RCV000722075\|RCV001449811\|RCV001787322\|RCV001787383\|RCV001787385\|RCV001787384\|RCV001787386\|RCV002291211;	Y	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010779,MedGen:C3151897,OMIM:500008, Orphanet:90641\|MedGen:CN184225\|MedGen:C5680250, Orphanet:96210\|\|\|\|\|\|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651, Orphanet:68380	M	1494	1494	M:g.1494C>T	ClinGen:CA254847,OMIM:561000.0004	CN236464 aminoglycoside antibacterials response - Toxicity/ADR;
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)	55687	TRMU	Pathogenic/Likely pathogenic	769668643	RCV001866829\|RCV002506887\|RCV003475118;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733680	46733680	46733680	-
NM_018006.5(TRMU):c.260_263del (p.Asn87fs)	55687	TRMU	Pathogenic/Likely pathogenic	-1	RCV002834412\|RCV003475436;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46739167	46739170	NC_000022.10:g.46739170_46739173del	-
NM_018006.5(TRMU):c.333dup (p.His112fs)	55687	TRMU	Pathogenic/Likely pathogenic	756600903	RCV000733251\|RCV002499369\|RCV003472267;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46739237	46739238	NC_000022.10:g.46739243dup	-
NM_018006.5(TRMU):c.397del (p.Leu133fs)	55687	TRMU	Pathogenic/Likely pathogenic	-1	RCV003052141\|RCV003475479;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742358	46742358	NC_000022.10:g.46742360del	-
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs)	55687	TRMU	Pathogenic/Likely pathogenic	2147054656	RCV001885012\|RCV003475147;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742390	46742391	46742390	-
NM_018006.5(TRMU):c.581dup (p.Leu195fs)	55687	TRMU	Pathogenic/Likely pathogenic	-1	RCV003069319\|RCV003475505;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46746284	46746285	NC_000022.10:g.46746290dup	-
NM_018006.5(TRMU):c.581del (p.Gly194fs)	55687	TRMU	Pathogenic/Likely pathogenic	763926467	RCV001069640\|RCV003473697;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46746285	46746285	22:g.46746285_46746285del	-
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter)	55687	TRMU	Pathogenic/Likely pathogenic	1800386420	RCV001380458\|RCV003473926;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748069	46748069	46748069	-
NM_018006.5(TRMU):c.803del (p.Ala268fs)	55687	TRMU	Pathogenic/Likely pathogenic	745338284	RCV001384177\|RCV002499800\|RCV003473951;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749694	46749694	46749693	-
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs)	55687	TRMU	Pathogenic/Likely pathogenic	1191230933	RCV001245797\|RCV003473829;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749709	46749710	22:g.46749709_46749710insGA	-
NM_018006.5(TRMU):c.835G>A (p.Val279Met)	55687	TRMU	Pathogenic/Likely pathogenic	387907022	RCV000023804\|RCV000442392\|RCV000623265\|RCV002496439\|RCV003473122;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010	22	46749726	46749726	22:g.46749726G>A	ClinGen:CA129482,UniProtKB:O75648#VAR_063431,OMIM:610230.0006	C0950123 Inborn genetic diseases;
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter)	55687	TRMU	Pathogenic/Likely pathogenic	759790041	RCV001213660\|RCV003473761;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751461	46751461	22:g.46751461C>T	-
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)	55687	TRMU	Pathogenic	1174791046	RCV001061663\|RCV001250082\|RCV003473679;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733710	46733710	22:g.46733710G>A	-
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	55687	TRMU	Pathogenic	118203990	RCV000001354\|RCV001851536\|RCV003472956;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733822	46733822	22:g.46733822T>C	ClinGen:CA114912,UniProtKB:O75648#VAR_063429,OMIM:610230.0002	C3278664 613070 Liver failure acute infantile;
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)	55687	TRMU	Pathogenic	367683258	RCV000200369\|RCV001273736\|RCV003474950;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748173	46748173	22:g.46748173C>T	ClinGen:CA324933	CN517202 not provided;
NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)	55687	TRMU	Likely pathogenic	-1	RCV003474184;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46731662	46731663		-
NM_018006.5(TRMU):c.83-2A>G	55687	TRMU	Likely pathogenic	747853875	RCV000812452\|RCV003472415;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733674	46733674	22:g.46733674A>G	-
NM_018006.5(TRMU):c.177_178del (p.Arg59fs)	55687	TRMU	Likely pathogenic	-1	RCV003474175;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733768	46733769		-
NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)	55687	TRMU	Likely pathogenic	-1	RCV003474173;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733824	46733824		-
NM_018006.5(TRMU):c.248+1G>T	55687	TRMU	Likely pathogenic	-1	RCV003474188;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733842	46733842		-
NM_018006.5(TRMU):c.249-2A>G	55687	TRMU	Likely pathogenic	768299416	RCV001378485\|RCV001826140\|RCV002499781\|RCV003473909;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:5800	22	46739157	46739157	46739157	-
NM_018006.5(TRMU):c.249-2A>C	55687	TRMU	Likely pathogenic	-1	RCV003474189;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46739157	46739157		-
NM_018006.5(TRMU):c.355+1G>C	55687	TRMU	Likely pathogenic	1407825579	RCV002020300\|RCV003475283;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46739266	46739266	46739266	-
NM_018006.5(TRMU):c.355+1G>T	55687	TRMU	Likely pathogenic	-1	RCV003474164;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46739266	46739266		-
NM_018006.5(TRMU):c.356-2_356-1del	55687	TRMU	Likely pathogenic	2147053913	RCV002038897\|RCV002492399\|RCV003475300;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609; MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742317	46742318	46742316	-
NM_018006.5(TRMU):c.356-2del	55687	TRMU	Likely pathogenic	-1	RCV003474181;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742317	46742317		-
NM_018006.5(TRMU):c.380dup (p.His127fs)	55687	TRMU	Likely pathogenic	-1	RCV003474180;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742342	46742343		-
NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)	55687	TRMU	Likely pathogenic	-1	RCV003474162;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742378	46742379		-
NM_018006.5(TRMU):c.458del (p.Asn153fs)	55687	TRMU	Likely pathogenic	-1	RCV003474165;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742419	46742419		-
NM_018006.5(TRMU):c.478+1G>A	55687	TRMU	Likely pathogenic	1569072157	RCV000796824\|RCV003472348;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742442	46742442	22:g.46742442G>A	-
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)	55687	TRMU	Likely pathogenic	-1	RCV003474163;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46746253	46746253		-
NM_018006.5(TRMU):c.575dup (p.Leu195fs)	55687	TRMU	Likely pathogenic	-1	RCV003474170;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46746283	46746284		-
NM_018006.5(TRMU):c.591del (p.Glu198fs)	55687	TRMU	Likely pathogenic	-1	RCV003474178;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46746298	46746298		-
NM_018006.5(TRMU):c.652-2A>G	55687	TRMU	Likely pathogenic	-1	RCV003332050\|RCV003475564;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748016	46748016		-
NM_018006.5(TRMU):c.660dup (p.Met221fs)	55687	TRMU	Likely pathogenic	-1	RCV003474182;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748025	46748026		-
NM_018006.5(TRMU):c.706-2A>G	55687	TRMU	Likely pathogenic	-1	RCV003474167;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748159	46748159		-
NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)	55687	TRMU	Likely pathogenic	-1	RCV003474191;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748192	46748193		-
NM_018006.5(TRMU):c.772+2T>G	55687	TRMU	Likely pathogenic	2147096093	RCV001378434\|RCV003473908;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748229	46748229	46748229	-
NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)	55687	TRMU	Likely pathogenic	-1	RCV003474186;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749668	46749668		-
NM_018006.5(TRMU):c.824_825del (p.Glu275fs)	55687	TRMU	Likely pathogenic	-1	RCV003474179;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749710	46749711		-
NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)	55687	TRMU	Likely pathogenic	-1	RCV003474176;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749721	46749721		-
NM_018006.5(TRMU):c.867_868del (p.Phe290fs)	55687	TRMU	Likely pathogenic	-1	RCV003474169;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749756	46749757		-
NM_018006.5(TRMU):c.872_873del (p.Val291fs)	55687	TRMU	Likely pathogenic	-1	RCV003474183;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749761	46749762		-
NM_018006.5(TRMU):c.873+2T>G	55687	TRMU	Likely pathogenic	-1	RCV003474166;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46749766	46749766		-
NM_018006.5(TRMU):c.874-2A>G	55687	TRMU	Likely pathogenic	-1	RCV002828558\|RCV003475429;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751339	46751339	NC_000022.10:g.46751339A>G	-
NM_018006.5(TRMU):c.874-1G>C	55687	TRMU	Likely pathogenic	-1	RCV003474187;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751340	46751340		-
NM_018006.5(TRMU):c.880del (p.Arg294fs)	55687	TRMU	Likely pathogenic	1490906786	RCV000674989\|RCV003472178;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751342	46751342	22:g.46751342_46751342del	-	C3278664 613070 Liver failure acute infantile;
NM_018006.5(TRMU):c.882del (p.Thr295fs)	55687	TRMU	Likely pathogenic	-1	RCV002282908\|RCV003475326;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751348	46751348	46751347	-
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)	55687	TRMU	Likely pathogenic	-1	RCV003474174;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751370	46751370		-
NM_018006.5(TRMU):c.925del (p.Arg309fs)	55687	TRMU	Likely pathogenic	-1	RCV003474172;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751391	46751391		-
NM_018006.5(TRMU):c.1019-2_1023del	55687	TRMU	Likely pathogenic	-1	RCV003474168;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751882	46751888		-
NM_018006.5(TRMU):c.1019-1G>A	55687	TRMU	Likely pathogenic	773484808	RCV002050245\|RCV002482408;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751886	46751886	46751886	-
NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)	55687	TRMU	Likely pathogenic	-1	RCV003474185;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751892	46751893		-
NM_018006.5(TRMU):c.1101+1G>A	55687	TRMU	Likely pathogenic	-1	RCV003474177;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751970	46751970		-
NM_018006.5(TRMU):c.1102-22_1130del	55687	TRMU	Likely pathogenic	-1	RCV003474190;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46752717	46752767		-
NM_018006.5(TRMU):c.1102-3C>G	55687	TRMU	Likely pathogenic	753039116	RCV000489397\|RCV001274268\|RCV003476176;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46752736	46752736	22:g.46752736C>G	ClinGen:CA10292443,OMIM:610230.0007	CN517202 not provided;
NM_018006.5(TRMU):c.1103_1109del	55687	TRMU	Likely pathogenic	-1	RCV003474171;	N	MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46752738	46752744		-
NM_018006.4(TRMU):c.-147C>A	55687	TRMU	Uncertain significance	190351151	RCV000307429\|RCV002504147;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46731515	46731515	22:g.46731515C>A	ClinGen:CA10645686	C3278664 613070 Liver failure acute infantile;
NM_018006.5(TRMU):c.27C>T (p.Cys9=)	55687	TRMU	Likely benign	1297282365	RCV002134270\|RCV002505799;	N	MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609; MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371	22	46731688	46731688	46731688	-
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	55687	TRMU	Benign/Likely benign	11090865	RCV000001353\|RCV000173461\|RCV000295210\|RCV000676757\|RCV002496227;	N	MedGen:C4017209\|MedGen:CN169374\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609; MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371	22	46731689	46731689	22:g.46731689G>T	ClinGen:CA114910,UniProtKB:O75648#VAR_027268,OMIM:610230.0001	C3278664 613070 Liver failure acute infantile;
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)	55687	TRMU	Uncertain significance	751248771	RCV000673121\|RCV001756140\|RCV002507175;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:CN517202\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609; MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371	22	46731701	46731701	22:g.46731701G>A	-	C3278664 613070 Liver failure acute infantile;
NM_018006.5(TRMU):c.96_97del (p.Phe35fs)	55687	TRMU	Conflicting interpretations of pathogenicity	762738569	RCV000778667\|RCV001070618\|RCV003472308;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46733689	46733690	NC_000022.10:g.46733689_46733690del	-
NM_018006.5(TRMU):c.387A>G (p.Ala129=)	55687	TRMU	Benign/Likely benign	144586525	RCV000178316\|RCV000346617\|RCV000955993\|RCV002498607;	N	MedGen:CN169374\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371; MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46742350	46742350	22:g.46742350A>G	ClinGen:CA302990	C3278664 613070 Liver failure acute infantile;
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)	55687	TRMU	Conflicting interpretations of pathogenicity	762710723	RCV000482741\|RCV003235241\|RCV003476171;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46746231	46746233	22:g.46746231_46746233del	ClinGen:CA10292084	CN517202 not provided;
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)	55687	TRMU	Conflicting interpretations of pathogenicity	764622793	RCV001250083\|RCV001879773\|RCV002298915\|RCV003473836;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46748046	46748046	22:g.46748046G>C	-
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)	55687	TRMU	Uncertain significance	186961144	RCV001146695\|RCV002480540\|RCV002557141;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609; MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900	22	46751369	46751369	22:g.46751369A>G	-
NM_018006.5(TRMU):c.954dup (p.Ala319fs)	55687	TRMU	Conflicting interpretations of pathogenicity	863224242	RCV000197202\|RCV000578236\|RCV003474951;	N	MedGen:C3661900\|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751418	46751419	22:g.46751418_46751419insC	ClinGen:CA321647	C3278664 613070 Liver failure acute infantile;
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	55687	TRMU	Conflicting interpretations of pathogenicity	753112330	RCV000667762\|RCV000734954\|RCV003117469\|RCV003472090;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46751933	46751934	NC_000022.10:g.46751941_46751949dup	-
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)	55687	TRMU	Conflicting interpretations of pathogenicity	774047684	RCV001150926\|RCV002557253\|RCV003473718;	N	MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070, Orphanet:217371\|MedGen:C3661900\|MONDO:MONDO:0010799,MedGen:C1838854,OMIM:580000, Orphanet:168609	22	46752779	46752779	22:g.46752779G>A	-

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000198804	MT-CO1	1	1	0	mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:7419]	00051
ENSG00000211459	MT-RNR1	1	7	3	mitochondrially encoded 12S RNA [Source:HGNC Symbol;Acc:7470]	00051
ENSG00000100416	TRMU	1	0	69	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase [Source:HGNC Symbol;Acc:25481]	00051

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