chrM:10134:C>A Detail (hg38) (MT-ND3)

Information

Genome

Assembly Position
hg19 chrM:10,135-10,135 View the variant detail on this assembly version.
hg38 chrM:10,134-10,134

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-05-15 no assertion criteria provided Leigh syndrome maternal Detail
Uncertain significance 2023-11-28 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
Annotation

Annotations

DescrptionSourceLinks
NC_012920.1(MT-ND3):m.10134C>A AND Leigh syndrome ClinVar Detail
NC_012920.1(MT-ND3):m.10134C>A AND Mitochondrial disease ClinVar Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs587780529 dbSNP
Genome
hg38
Position
chrM:10,134-10,134
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser