rs564069299

Orientation

plus

Stabilized

plus

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.p2 38.2/144

Chromosome

6

Position

49451692

Gene

MUT

is a	snp
is	mentioned by
dbSNP	rs564069299
dbSNP (classic)	rs564069299
ClinGen	rs564069299
ebi	rs564069299
HLI	rs564069299
Exac	rs564069299
Gnomad	rs564069299
Varsome	rs564069299
LitVar	rs564069299
Map	rs564069299
PheGenI	rs564069299
Biobank	rs564069299
1000 genomes	rs564069299
hgdp	rs564069299
ensembl	rs564069299
geneview	rs564069299
scholar	rs564069299
google	rs564069299
pharmgkb	rs564069299
gwascentral	rs564069299
openSNP	rs564069299
23andMe	rs564069299
SNPshot	rs564069299
SNPdbe	rs564069299
MSV3d	rs564069299
GWAS Ctlg	rs564069299

Max Magnitude

8.8

aka c.1106G>A, p.Arg369His or R369H; pathogenic variant seen in Japan

ClinVar
Risk	Rs564069299(T;T)
Alt	Rs564069299(T;T)
Reference	Rs564069299(C;C)
Significance	Pathogenic
Disease	not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation	info
Gene	MUT
CLNDBN	not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed	0
HGVS	NC_000006.11:g.49419405C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000186046.2, RCV000203318.1,