rs121918253

Orientation

minus

Stabilized

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

49459118

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs121918253
dbSNP (classic)	rs121918253
ClinGen	rs121918253
ebi	rs121918253
HLI	rs121918253
Exac	rs121918253
Gnomad	rs121918253
Varsome	rs121918253
LitVar	rs121918253
Map	rs121918253
PheGenI	rs121918253
Biobank	rs121918253
1000 genomes	rs121918253
hgdp	rs121918253
ensembl	rs121918253
geneview	rs121918253
scholar	rs121918253
google	rs121918253
pharmgkb	rs121918253
gwascentral	rs121918253
openSNP	rs121918253
23andMe	rs121918253
SNPshot	rs121918253
SNPdbe	rs121918253
MSV3d	rs121918253
GWAS Ctlg	rs121918253

Max Magnitude

8.8

aka c.349G>T, p.Glu117Ter or E117X; pathogenic variant seen in Japan

23andMe name: i5000072

OMIM	609058
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs121918253(T;T)
Alt	Rs121918253(T;T)
Reference	Rs121918253(G;G)
Significance	Pathogenic
Disease	METHYLMALONIC ACIDURIA
Variation	info
Gene	MUT
CLNDBN	METHYLMALONIC ACIDURIA, mut(-) TYPE
Reversed	1
HGVS	NC_000006.11:g.49426831C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001959.2,