rs121918242

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a methylmalonic aciduria type cblC mutation
(T;T)	8	methylmalonic aciduria, cblC type

Reference

GRCh38 38.1/141

Chromosome

1

Position

45508266

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs121918242
dbSNP (classic)	rs121918242
ClinGen	rs121918242
ebi	rs121918242
HLI	rs121918242
Exac	rs121918242
Gnomad	rs121918242
Varsome	rs121918242
LitVar	rs121918242
Map	rs121918242
PheGenI	rs121918242
Biobank	rs121918242
1000 genomes	rs121918242
hgdp	rs121918242
ensembl	rs121918242
geneview	rs121918242
scholar	rs121918242
google	rs121918242
pharmgkb	rs121918242
gwascentral	rs121918242
openSNP	rs121918242
23andMe	rs121918242
SNPshot	rs121918242
SNPdbe	rs121918242
MSV3d	rs121918242
GWAS Ctlg	rs121918242

Max Magnitude

8

aka c.331C>T (p.Arg111Ter or R111X)

OMIM	609831
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs121918242(T;T)
Alt	Rs121918242(T;T)
Reference	Rs121918242(C;C)
Significance	Pathogenic
Disease	Methylmalonic acidemia with homocystinuria not provided
Variation	info
Gene	MMACHC
CLNDBN	Methylmalonic acidemia with homocystinuria not provided
Reversed	0
HGVS	NC_000001.10:g.45973938C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001489.2, RCV000186026.2,