rs137973334
From SNPedia
Orientation | plus |
Stabilized | plus |
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 |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 99162249 |
Gene | LIPT1, MITD1 |
is a | snp |
is | mentioned by |
dbSNP | rs137973334 |
dbSNP (classic) | rs137973334 |
ClinGen | rs137973334 |
ebi | rs137973334 |
HLI | rs137973334 |
Exac | rs137973334 |
Gnomad | rs137973334 |
Varsome | rs137973334 |
LitVar | rs137973334 |
Map | rs137973334 |
PheGenI | rs137973334 |
Biobank | rs137973334 |
1000 genomes | rs137973334 |
hgdp | rs137973334 |
ensembl | rs137973334 |
geneview | rs137973334 |
scholar | rs137973334 |
rs137973334 | |
pharmgkb | rs137973334 |
gwascentral | rs137973334 |
openSNP | rs137973334 |
23andMe | rs137973334 |
SNPshot | rs137973334 |
SNPdbe | rs137973334 |
MSV3d | rs137973334 |
GWAS Ctlg | rs137973334 |
Max Magnitude | 9 |
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;G) Rs137973334(T;T) |
Alt | rs137973334(G;G) Rs137973334(T;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 UniProtKB (protein) |
CLNACC | RCV000170327.3, |