rs121918256

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

49457789

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs121918256
dbSNP (classic)	rs121918256
ClinGen	rs121918256
ebi	rs121918256
HLI	rs121918256
Exac	rs121918256
Gnomad	rs121918256
Varsome	rs121918256
LitVar	rs121918256
Map	rs121918256
PheGenI	rs121918256
Biobank	rs121918256
1000 genomes	rs121918256
hgdp	rs121918256
ensembl	rs121918256
geneview	rs121918256
scholar	rs121918256
google	rs121918256
pharmgkb	rs121918256
gwascentral	rs121918256
openSNP	rs121918256
23andMe	rs121918256
SNPshot	rs121918256
SNPdbe	rs121918256
MSV3d	rs121918256
GWAS Ctlg	rs121918256

Max Magnitude

8.8

aka c.655A>T, p.Asn219Tyr or N219Y; identified with increased frequency in persons of northern European heritage

23andMe name: i5000071

OMIM	609058
Desc
Variant	0010
Related	also

ClinVar
Risk	Rs121918256(T;T)
Alt	Rs121918256(T;T)
Reference	Rs121918256(A;A)
Significance	Pathogenic
Disease	METHYLMALONIC ACIDURIA not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	METHYLMALONIC ACIDURIA, mut(0) TYPE not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	1
HGVS	NC_000006.11:g.49425502T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001963.2, RCV000186055.2, RCV000203309.2,