rs121918258

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

49457801

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs121918258
dbSNP (classic)	rs121918258
ClinGen	rs121918258
ebi	rs121918258
HLI	rs121918258
Exac	rs121918258
Gnomad	rs121918258
Varsome	rs121918258
LitVar	rs121918258
Map	rs121918258
PheGenI	rs121918258
Biobank	rs121918258
1000 genomes	rs121918258
hgdp	rs121918258
ensembl	rs121918258
geneview	rs121918258
scholar	rs121918258
google	rs121918258
pharmgkb	rs121918258
gwascentral	rs121918258
openSNP	rs121918258
23andMe	rs121918258
SNPshot	rs121918258
SNPdbe	rs121918258
MSV3d	rs121918258
GWAS Ctlg	rs121918258

Max Magnitude

8.8

aka c.643G>A, p.Gly215Ser or G215S

23andMe name: i5007475

OMIM	609058
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs121918258(A;A) rs121918258(T;T)
Alt	Rs121918258(A;A) rs121918258(T;T)
Reference	Rs121918258(G;G)
Significance	Pathogenic
Disease	not provided METHYLMALONIC ACIDURIA Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	not provided METHYLMALONIC ACIDURIA, mut(0) TYPE Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	1
HGVS	NC_000006.11:g.49425514C>A; NC_000006.11:g.49425514C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000478937.1, RCV000001965.2, RCV000203381.1,