rs201754030
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a combined oxidative phosphorylation deficiency-3 mutation |
(T;T) | 8.1 | Combined oxidative phosphorylation deficiency-3 likely |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 57796461 |
Gene | TSFM |
is a | snp |
is | mentioned by |
dbSNP | rs201754030 |
dbSNP (classic) | rs201754030 |
ClinGen | rs201754030 |
ebi | rs201754030 |
HLI | rs201754030 |
Exac | rs201754030 |
Gnomad | rs201754030 |
Varsome | rs201754030 |
LitVar | rs201754030 |
Map | rs201754030 |
PheGenI | rs201754030 |
Biobank | rs201754030 |
1000 genomes | rs201754030 |
hgdp | rs201754030 |
ensembl | rs201754030 |
geneview | rs201754030 |
scholar | rs201754030 |
rs201754030 | |
pharmgkb | rs201754030 |
gwascentral | rs201754030 |
openSNP | rs201754030 |
23andMe | rs201754030 |
SNPshot | rs201754030 |
SNPdbe | rs201754030 |
MSV3d | rs201754030 |
GWAS Ctlg | rs201754030 |
Max Magnitude | 8.1 |
rs201754030, also known as c.856C>T, p.Gln286Ter, Gln307* and Q307X, represents a rare mutation in the TSFM gene on chromosome 12.
Inherited as an autosomal recessive, the minor allele is considered pathogenic (in ClinVar and OMIM) for combined oxidative phosphorylation deficiency-3, a serious congenital disorder associated with a variety of myopathic and cardiopathic abnormalities.
ClinVar | |
---|---|
Risk | Rs201754030(T;T) |
Alt | Rs201754030(T;T) |
Reference | Rs201754030(C;C) |
Significance | Pathogenic |
Disease | Combined oxidative phosphorylation deficiency 3 Primary dilated cardiomyopathy |
Variation | info |
Gene | TSFM AVIL |
CLNDBN | Combined oxidative phosphorylation deficiency 3 Primary dilated cardiomyopathy |
Reversed | 0 |
HGVS | NC_000012.11:g.58190244C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000143783.3, RCV000157550.1, |