chrM:10191:T>C Detail (hg38) (MT-ND3)

Information

Genome

Assembly Position
hg19 chrM:10,192-10,192 View the variant detail on this assembly version.
hg38 chrM:10,191-10,191

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
other LEIGH SYNDROME; LS germline MGS000009
(TMGS000012) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-01-01 no assertion criteria provided Mitochondrial complex 1 deficiency, mitochondrial type 1 germline Detail
Pathogenic 2019-10-17 criteria provided, single submitter Leigh syndrome germline Detail
Likely pathogenic no assertion criteria provided mitochondrial complex I deficiency germline Detail
Pathogenic 2022-08-23 reviewed by expert panel Mitochondrial disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.250 Leigh disease NA CLINVAR Detail
0.240 mitochondrial complex I deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NC_012920.1(MT-ND3):m.10191T>C AND Mitochondrial complex 1 deficiency, mitochondrial type 1 ClinVar Detail
NC_012920.1(MT-ND3):m.10191T>C AND Leigh syndrome ClinVar Detail
NC_012920.1(MT-ND3):m.10191T>C AND Mitochondrial complex I deficiency ClinVar Detail
NC_012920.1(MT-ND3):m.10191T>C AND Mitochondrial disease ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs267606890 dbSNP
Genome
hg38
Position
chrM:10,191-10,191
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser