rs397509362

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;CTAGCAGAACCTTTATCA)	3	Carrier of a methylmalonic aciduria type cblD mutation

Make rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)

Reference

GRCh38 38.1/141

Chromosome

2

Position

149579478

Gene

MMADHC

is a	snp
is	mentioned by
dbSNP	rs397509362
dbSNP (classic)	rs397509362
ClinGen	rs397509362
ebi	rs397509362
HLI	rs397509362
Exac	rs397509362
Gnomad	rs397509362
Varsome	rs397509362
LitVar	rs397509362
Map	rs397509362
PheGenI	rs397509362
Biobank	rs397509362
1000 genomes	rs397509362
hgdp	rs397509362
ensembl	rs397509362
geneview	rs397509362
scholar	rs397509362
google	rs397509362
pharmgkb	rs397509362
gwascentral	rs397509362
openSNP	rs397509362
23andMe	rs397509362
SNPshot	rs397509362
SNPdbe	rs397509362
MSV3d	rs397509362
GWAS Ctlg	rs397509362

Max Magnitude

3

ClinVar
Risk	rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)
Alt	rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)
Reference	Rs397509362(-;-)
Significance	Pathogenic
Disease	Methylmalonic aciduria Methylmalonic acidemia with homocystinuria cblD
Variation	info
Gene	MMADHC
CLNDBN	Methylmalonic aciduria, cblD type, variant 2 Methylmalonic acidemia with homocystinuria cblD
Reversed	1
HGVS	NC_000002.11:g.150435993_150436010dup18
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000802.5, RCV000203341.1,