rs35333334

minus

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

Make rs35333334(C;T)

Make rs35333334(T;T)

Reference

GRCh38 38.1/142

Chromosome

12

Position

101749181

Gene	CHPT1, GNPTAB

is a	snp
is	mentioned by
dbSNP	rs35333334
dbSNP (classic)	rs35333334
ClinGen	rs35333334
ebi	rs35333334
HLI	rs35333334
Exac	rs35333334
Gnomad	rs35333334
Varsome	rs35333334
LitVar	rs35333334
Map	rs35333334
PheGenI	rs35333334
Biobank	rs35333334
1000 genomes	rs35333334
hgdp	rs35333334
ensembl	rs35333334
geneview	rs35333334
scholar	rs35333334
google	rs35333334
pharmgkb	rs35333334
gwascentral	rs35333334
openSNP	rs35333334
23andMe	rs35333334
SNPshot	rs35333334
SNPdbe	rs35333334
MSV3d	rs35333334
GWAS Ctlg	rs35333334

Max Magnitude

0

ClinVar
Risk	rs35333334(T;T)
Alt	rs35333334(T;T)
Reference	Rs35333334(C;C)
Significance	Pathogenic
Disease	Pseudo-Hurler polydystrophy I cell disease
Variation	info
Gene	GNPTAB LOC101929005
CLNDBN	Pseudo-Hurler polydystrophy I cell disease
Reversed	1
HGVS	NC_000012.11:g.102142959G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031986.2, RCV000032344.1,

[PMID 16200072] Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

[PMID 16465621 ] Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.

[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.