rs786205156

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

99162492

Gene	LIPT1, MITD1

is a	snp
is	mentioned by
dbSNP	rs786205156
dbSNP (classic)	rs786205156
ClinGen	rs786205156
ebi	rs786205156
HLI	rs786205156
Exac	rs786205156
Gnomad	rs786205156
Varsome	rs786205156
LitVar	rs786205156
Map	rs786205156
PheGenI	rs786205156
Biobank	rs786205156
1000 genomes	rs786205156
hgdp	rs786205156
ensembl	rs786205156
geneview	rs786205156
scholar	rs786205156
google	rs786205156
pharmgkb	rs786205156
gwascentral	rs786205156
openSNP	rs786205156
23andMe	rs786205156
SNPshot	rs786205156
SNPdbe	rs786205156
MSV3d	rs786205156
GWAS Ctlg	rs786205156

Max Magnitude

9

rs786205156, also known as c.535A>G, p.Thr179Ala and T179A, 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	Rs786205156(G;G)
Alt	Rs786205156(G;G)
Reference	Rs786205156(A;A)
Significance	Pathogenic
Disease	Lipoyltransferase 1 deficiency
Variation	info
Gene	LIPT1
CLNDBN	Lipoyltransferase 1 deficiency
Reversed	0
HGVS	NC_000002.11:g.99778955A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170325.3,