chrM:9438:G>A Detail (hg19) (MT-CO3)

Information

Genome

Assembly Position
hg19 chrM:9,438-9,438
hg38 chrM:9,437-9,437 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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
[No Data.]
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
Gene
-
dbSNP
rs267606611 dbSNP
Genome
hg19
Position
chrM:9,438-9,438
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs267606611
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0008
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8380
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