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rs137973334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of a Lipoyltransferase mutation (severe)
(T;T) 9 Lipoyltransferase 1 deficiency
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position99162249
GeneLIPT1, MITD1
is asnp
is mentioned by
dbSNPrs137973334
ebirs137973334
HLIrs137973334
Exacrs137973334
Varsomers137973334
Maprs137973334
PheGenIrs137973334
hapmaprs137973334
1000 genomesrs137973334
hgdprs137973334
ensemblrs137973334
gopubmedrs137973334
geneviewrs137973334
scholarrs137973334
googlers137973334
pharmgkbrs137973334
gwascentralrs137973334
openSNPrs137973334
23andMers137973334
23andMe allrs137973334
SNP Nexus

SNPshotrs137973334
SNPdbers137973334
MSV3drs137973334
GWAS Ctlgrs137973334
Max Magnitude9

rs137973334, also known as c.292C>G, p.Arg98Gly and R98G, 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.

ClinVar
Risk rs137973334(G,T;G,T)
Alt rs137973334(G,T;G,T)
Reference rs137973334(C;C)
Significance Pathogenic
Disease Lipoyltransferase 1 deficiency
Variation info
Gene LIPT1
CLNDBN Lipoyltransferase 1 deficiency
Reversed 0
HGVS NC_000002.11:g.99778712C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000170327.3,