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rs137891647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 3 Unaffected carrier of a Lipoyltransferase 1 deficiency mutation (severe)
(G;G) 9 Lipoyltransferase 1 deficiency (severe)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position99162832
GeneLIPT1, MITD1
is asnp
is mentioned by
dbSNPrs137891647
ClinGenrs137891647
ebirs137891647
HLIrs137891647
Exacrs137891647
Varsomers137891647
Maprs137891647
PheGenIrs137891647
hapmaprs137891647
1000 genomesrs137891647
hgdprs137891647
ensemblrs137891647
gopubmedrs137891647
geneviewrs137891647
scholarrs137891647
googlers137891647
pharmgkbrs137891647
gwascentralrs137891647
openSNPrs137891647
23andMers137891647
23andMe allrs137891647
SNP Nexus

SNPshotrs137891647
SNPdbers137891647
MSV3drs137891647
GWAS Ctlgrs137891647
Max Magnitude9
rs137891647, also known as c.875C>G, p.Ser292Ter and S292X, represents a rare mutation in the LIPT1 gene on chromosome 2.

Recessively inherited, mutations in the LIPT1 gene are considered causative for lipoyltransferase 1 deficiency, a severe metabolic disorder often leading to death soon after birth.

This mutation is reported based on [PMID 24341803OA-icon.png], and although not annotated as such at the time of this edit, it corresponds to OMIM 610284.0001.

ClinVar
Risk Rs137891647(G;G)
Alt Rs137891647(G;G)
Reference Rs137891647(C;C)
Significance Pathogenic
Disease Lipoyltransferase 1 deficiency
Variation info
Gene LIPT1
CLNDBN Lipoyltransferase 1 deficiency
Reversed 0
HGVS NC_000002.11:g.99779295C>G
CLNSRC
CLNACC RCV000351422.1,