rs80338707

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80338707(A;A)

Make rs80338707(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8847775

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs80338707
dbSNP (classic)	rs80338707
ClinGen	rs80338707
ebi	rs80338707
HLI	rs80338707
Exac	rs80338707
Gnomad	rs80338707
Varsome	rs80338707
LitVar	rs80338707
Map	rs80338707
PheGenI	rs80338707
Biobank	rs80338707
1000 genomes	rs80338707
hgdp	rs80338707
ensembl	rs80338707
geneview	rs80338707
scholar	rs80338707
google	rs80338707
pharmgkb	rs80338707
gwascentral	rs80338707
openSNP	rs80338707
23andMe	rs80338707
SNPshot	rs80338707
SNPdbe	rs80338707
MSV3d	rs80338707
GWAS Ctlg	rs80338707

Max Magnitude

0

OMIM	601785
Desc
Variant	0014
Related	also

ClinVar
Risk	rs80338707(A;A)
Alt	rs80338707(A;A)
Reference	Rs80338707(G;G)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I not provided
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I not provided
Reversed	0
HGVS	NC_000016.9:g.8941632G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008158.5, RCV000078597.3,

[PMID 10922383] Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.