rs137891647
From SNPedia
Orientation | plus |
Stabilized | plus |
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) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 99162832 |
Gene | LIPT1, MITD1 |
is a | snp |
is | mentioned by |
dbSNP | rs137891647 |
dbSNP (classic) | rs137891647 |
ClinGen | rs137891647 |
ebi | rs137891647 |
HLI | rs137891647 |
Exac | rs137891647 |
Gnomad | rs137891647 |
Varsome | rs137891647 |
LitVar | rs137891647 |
Map | rs137891647 |
PheGenI | rs137891647 |
Biobank | rs137891647 |
1000 genomes | rs137891647 |
hgdp | rs137891647 |
ensembl | rs137891647 |
geneview | rs137891647 |
scholar | rs137891647 |
rs137891647 | |
pharmgkb | rs137891647 |
gwascentral | rs137891647 |
openSNP | rs137891647 |
23andMe | rs137891647 |
SNPshot | rs137891647 |
SNPdbe | rs137891647 |
MSV3d | rs137891647 |
GWAS Ctlg | rs137891647 |
Max Magnitude | 9 |
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 24341803], 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, |