rs121918257

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

49459145

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs121918257
dbSNP (classic)	rs121918257
ClinGen	rs121918257
ebi	rs121918257
HLI	rs121918257
Exac	rs121918257
Gnomad	rs121918257
Varsome	rs121918257
LitVar	rs121918257
Map	rs121918257
PheGenI	rs121918257
Biobank	rs121918257
1000 genomes	rs121918257
hgdp	rs121918257
ensembl	rs121918257
geneview	rs121918257
scholar	rs121918257
google	rs121918257
pharmgkb	rs121918257
gwascentral	rs121918257
openSNP	rs121918257
23andMe	rs121918257
SNPshot	rs121918257
SNPdbe	rs121918257
MSV3d	rs121918257
GWAS Ctlg	rs121918257

GMAF

0.0004591

Max Magnitude

8.8

aka c.322C>T, p.Arg108Cys or R108C; common pathogenic variant among Hispanics

23andMe name: i5000073

OMIM	609058
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs121918257(T;T)
Alt	Rs121918257(T;T)
Reference	Rs121918257(C;C)
Significance	Pathogenic
Disease	METHYLMALONIC ACIDURIA Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	1
HGVS	NC_000006.11:g.49426858G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001964.2, RCV000197802.1, RCV000203340.2,