rs137973334

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
google	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,