rs879253834

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of a methylmalonic aciduria mutation

Make rs879253834(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

6

Position

49457751

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs879253834
dbSNP (classic)	rs879253834
ClinGen	rs879253834
ebi	rs879253834
HLI	rs879253834
Exac	rs879253834
Gnomad	rs879253834
Varsome	rs879253834
LitVar	rs879253834
Map	rs879253834
PheGenI	rs879253834
Biobank	rs879253834
1000 genomes	rs879253834
hgdp	rs879253834
ensembl	rs879253834
geneview	rs879253834
scholar	rs879253834
google	rs879253834
pharmgkb	rs879253834
gwascentral	rs879253834
openSNP	rs879253834
23andMe	rs879253834
SNPshot	rs879253834
SNPdbe	rs879253834
MSV3d	rs879253834
GWAS Ctlg	rs879253834

Max Magnitude

3

aka c.693C>G (p.Tyr231Ter or Y231X)

23andMe name: i700020

ClinVar
Risk	rs879253834(G;G)
Alt	rs879253834(G;G)
Reference	Rs879253834(C;C)
Significance	Pathogenic
Disease	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	1
HGVS	NC_000006.11:g.49425464G>C
CLNSRC
CLNACC	RCV000236100.1,