chrM:8343:A>G Detail (hg38) (MT-TK)

Information

Genome

Assembly Position
hg19 chrM:8,344-8,344 View the variant detail on this assembly version.
hg38 chrM:8,343-8,343

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-07-12 criteria provided, single submitter Juvenile myopathy, encephalopathy, lactic acidosis AND stroke germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NC_012920.1(MT-CYB):m.8343A>G AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar Detail
Gene
-
dbSNP
rs1603221411 dbSNP
Genome
hg38
Position
chrM:8,343-8,343
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser