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rs201754030

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/142
Chromosome12
Position57796461
GeneTSFM
is asnp
is mentioned by
dbSNPrs201754030
dbSNP (old)rs201754030
ClinGenrs201754030
ebirs201754030
HLIrs201754030
Exacrs201754030
Varsomers201754030
Maprs201754030
PheGenIrs201754030
Biobankrs201754030
1000 genomesrs201754030
hgdprs201754030
ensemblrs201754030
gopubmedrs201754030
geneviewrs201754030
scholarrs201754030
googlers201754030
pharmgkbrs201754030
gwascentralrs201754030
openSNPrs201754030
23andMers201754030
23andMe allrs201754030
SNP Nexus

SNPshotrs201754030
SNPdbers201754030
MSV3drs201754030
GWAS Ctlgrs201754030
Max Magnitude8.1

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,