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rs767568897

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Unaffected carrier of a Lipoyltransferase 1 deficiency mutation (severe)
(T;T) 9 Lipoyltransferase 1 deficiency (severe)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position99162169
GeneLIPT1, MITD1
is asnp
is mentioned by
dbSNPrs767568897
ebirs767568897
HLIrs767568897
Exacrs767568897
Varsomers767568897
Maprs767568897
PheGenIrs767568897
hapmaprs767568897
1000 genomesrs767568897
hgdprs767568897
ensemblrs767568897
gopubmedrs767568897
geneviewrs767568897
scholarrs767568897
googlers767568897
pharmgkbrs767568897
gwascentralrs767568897
openSNPrs767568897
23andMers767568897
23andMe allrs767568897
SNP Nexus

SNPshotrs767568897
SNPdbers767568897
MSV3drs767568897
GWAS Ctlgrs767568897
Max Magnitude9

rs767568897, also known as c.212C>T, p.Ser71Phe and S71F, 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 rs767568897(G,T;G,T)
Alt rs767568897(G,T;G,T)
Reference rs767568897(C;C)
Significance Pathogenic
Disease Lipoyltransferase 1 deficiency
Variation info
Gene LIPT1
CLNDBN Lipoyltransferase 1 deficiency
Reversed 0
HGVS NC_000002.11:g.99778632C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170326.3,