rs80338701

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Carrier of a congenital disorder of glycosylation type I mutation
(C;C)	0	common in clinvar

Make rs80338701(A;A)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8811088

Gene

PMM2

is a	snp
is	mentioned by
dbSNP	rs80338701
dbSNP (classic)	rs80338701
ClinGen	rs80338701
ebi	rs80338701
HLI	rs80338701
Exac	rs80338701
Gnomad	rs80338701
Varsome	rs80338701
LitVar	rs80338701
Map	rs80338701
PheGenI	rs80338701
Biobank	rs80338701
1000 genomes	rs80338701
hgdp	rs80338701
ensembl	rs80338701
geneview	rs80338701
scholar	rs80338701
google	rs80338701
pharmgkb	rs80338701
gwascentral	rs80338701
openSNP	rs80338701
23andMe	rs80338701
SNPshot	rs80338701
SNPdbe	rs80338701
MSV3d	rs80338701
GWAS Ctlg	rs80338701

Max Magnitude

3

aka c.357C>A (p.Phe119Leu or F119L)

23andMe name: i5012679

OMIM	601785
Desc
Variant	0006
Related	also

ClinVar
Risk	rs80338701(A;A)
Alt	rs80338701(A;A)
Reference	Rs80338701(C;C)
Significance	Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I not provided Congenital disorder of glycosylation
Variation	info
Gene	PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I not provided Congenital disorder of glycosylation
Reversed	0
HGVS	NC_000016.9:g.8904945C>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008150.5, RCV000078589.3, RCV000386015.1,

[PMID 9497260] Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

[PMID 9781039] Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.