chrM:9438:G>A Detail (hg38) (MT-CO3)

Information

Genome

Assembly Position
hg19 chrM:9,439-9,439 View the variant detail on this assembly version.
hg38 chrM:9,438-9,438

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
Pathogenic 1995-10-01 no assertion criteria provided Leber optic atrophy germline Detail
Benign 2019-10-17 criteria provided, single submitter Leigh syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Optic Atrophy, Hereditary, Leber NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NC_012920.1(MT-CO3):m.9438G>A AND Leber optic atrophy ClinVar Detail
NC_012920.1(MT-CO3):m.9438G>A AND Leigh syndrome ClinVar Detail
NA DisGeNET Detail
Gene
-
dbSNP
rs267606611 dbSNP
Genome
hg38
Position
chrM:9,438-9,438
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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