rs137891647

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
google	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,