chrM:8363:G>A Detail (hg38) (MT-TK)

Information

Genome

Assembly Position
hg19 chrM:8,364-8,364 View the variant detail on this assembly version.
hg38 chrM:8,363-8,363

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1996-05-01 no assertion criteria provided Cardiomyopathy and Deafness germline Detail
not provided no assertion provided Leigh syndrome germline Detail
not provided no assertion provided MERRF syndrome maternal Detail
Pathogenic 2022-05-04 criteria provided, multiple submitters, no conflicts Juvenile myopathy, encephalopathy, lactic acidosis AND stroke germline Detail
Likely pathogenic 2023-03-13 reviewed by expert panel Mitochondrial disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Leigh disease NA CLINVAR Detail
0.124 MERRF syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NC_012920.1(MT-TK):m.8363G>A AND Cardiomyopathy and Deafness ClinVar Detail
NC_012920.1(MT-TK):m.8363G>A AND Leigh syndrome ClinVar Detail
NC_012920.1(MT-TK):m.8363G>A AND MERRF syndrome ClinVar Detail
NC_012920.1(MT-TK):m.8363G>A AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar Detail
NC_012920.1(MT-TK):m.8363G>A AND Mitochondrial disease ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs118192100 dbSNP
Genome
hg38
Position
chrM:8,363-8,363
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser