rs121918252

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier for a methylmalonic aciduria mutation
(T;T)	8.8	Methylmalonic aciduria (predicted)

Reference

GRCh38 38.1/141

Chromosome

6

Position

49431831

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs121918252
dbSNP (classic)	rs121918252
ClinGen	rs121918252
ebi	rs121918252
HLI	rs121918252
Exac	rs121918252
Gnomad	rs121918252
Varsome	rs121918252
LitVar	rs121918252
Map	rs121918252
PheGenI	rs121918252
Biobank	rs121918252
1000 genomes	rs121918252
hgdp	rs121918252
ensembl	rs121918252
geneview	rs121918252
scholar	rs121918252
google	rs121918252
pharmgkb	rs121918252
gwascentral	rs121918252
openSNP	rs121918252
23andMe	rs121918252
SNPshot	rs121918252
SNPdbe	rs121918252
MSV3d	rs121918252
GWAS Ctlg	rs121918252

Max Magnitude

8.8

aka c.2150G>T, p.Gly717Val, G717V; p.Gly717Val is reported to be observed in 41% of affected African Americans and Nigerians associated with a mut- phenotype.

23andMe name: i5000070

OMIM	609058
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs121918252(T;T)
Alt	Rs121918252(T;T)
Reference	Rs121918252(G;G)
Significance	Pathogenic
Disease	METHYLMALONIC ACIDURIA not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	METHYLMALONIC ACIDURIA, mut(-) TYPE not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	1
HGVS	NC_000006.11:g.49399544C>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001958.2, RCV000078445.3, RCV000174456.2,