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rs786205156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Unaffected carrier of a Lipoyltransferase 1 deficiency mutation (severe)
(G;G) 9 Lipoyltransferase 1 deficiency (severe)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position99162492
GeneLIPT1, MITD1
is asnp
is mentioned by
dbSNPrs786205156
ebirs786205156
HLIrs786205156
Exacrs786205156
Varsomers786205156
Maprs786205156
PheGenIrs786205156
hapmaprs786205156
1000 genomesrs786205156
hgdprs786205156
ensemblrs786205156
gopubmedrs786205156
geneviewrs786205156
scholarrs786205156
googlers786205156
pharmgkbrs786205156
gwascentralrs786205156
openSNPrs786205156
23andMers786205156
23andMe allrs786205156
SNP Nexus

SNPshotrs786205156
SNPdbers786205156
MSV3drs786205156
GWAS Ctlgrs786205156
Max Magnitude9

rs786205156, also known as c.535A>G, p.Thr179Ala and T179A, 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 rs786205156(G;G)
Alt rs786205156(G;G)
Reference rs786205156(A;A)
Significance Pathogenic
Disease Lipoyltransferase 1 deficiency
Variation info
Gene LIPT1
CLNDBN Lipoyltransferase 1 deficiency
Reversed 0
HGVS NC_000002.11:g.99778955A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000170325.3,