rs398124293

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	8	methylmalonic aciduria, cblC type
(-;GT)	2	carrier of a methylmalonic aciduria allele
(G;G)	0	common in clinvar
(GT;GT)	0	common/normal
(TG;TG)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

45508913

Gene

MMACHC

is a	snp
is	mentioned by
dbSNP	rs398124293
dbSNP (classic)	rs398124293
ClinGen	rs398124293
ebi	rs398124293
HLI	rs398124293
Exac	rs398124293
Gnomad	rs398124293
Varsome	rs398124293
LitVar	rs398124293
Map	rs398124293
PheGenI	rs398124293
Biobank	rs398124293
1000 genomes	rs398124293
hgdp	rs398124293
ensembl	rs398124293
geneview	rs398124293
scholar	rs398124293
google	rs398124293
pharmgkb	rs398124293
gwascentral	rs398124293
openSNP	rs398124293
23andMe	rs398124293
SNPshot	rs398124293
SNPdbe	rs398124293
MSV3d	rs398124293
GWAS Ctlg	rs398124293

Max Magnitude

8

aka c.547_548delGT (p.Val183Thrfs)

ClinVar
Risk	Rs398124293(-;-)
Alt	Rs398124293(-;-)
Reference	Rs398124293(TG;TG)
Significance	Pathogenic
Disease	not provided Methylmalonic acidemia with homocystinuria
Variation	info
Gene	MMACHC
CLNDBN	not provided Methylmalonic acidemia with homocystinuria
Reversed	0
HGVS	NC_000001.10:g.45974585_45974586delGT
CLNSRC	HGMD
CLNACC	RCV000081741.4, RCV000266579.1,