rs767568897

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Unaffected carrier of a Lipoyltransferase 1 deficiency mutation (severe)
(T;T)	9	Lipoyltransferase 1 deficiency (severe)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

99162169

Gene	LIPT1, MITD1

is a	snp
is	mentioned by
dbSNP	rs767568897
dbSNP (classic)	rs767568897
ClinGen	rs767568897
ebi	rs767568897
HLI	rs767568897
Exac	rs767568897
Gnomad	rs767568897
Varsome	rs767568897
LitVar	rs767568897
Map	rs767568897
PheGenI	rs767568897
Biobank	rs767568897
1000 genomes	rs767568897
hgdp	rs767568897
ensembl	rs767568897
geneview	rs767568897
scholar	rs767568897
google	rs767568897
pharmgkb	rs767568897
gwascentral	rs767568897
openSNP	rs767568897
23andMe	rs767568897
SNPshot	rs767568897
SNPdbe	rs767568897
MSV3d	rs767568897
GWAS Ctlg	rs767568897

Max Magnitude

9

rs767568897, also known as c.212C>T, p.Ser71Phe and S71F, 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	rs767568897(G;G) Rs767568897(T;T)
Alt	rs767568897(G;G) Rs767568897(T;T)
Reference	Rs767568897(C;C)
Significance	Pathogenic
Disease	Lipoyltransferase 1 deficiency
Variation	info
Gene	LIPT1
CLNDBN	Lipoyltransferase 1 deficiency
Reversed	0
HGVS	NC_000002.11:g.99778632C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170326.3,