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rs35333334

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35333334(C;T)
Make rs35333334(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position101749181
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs35333334
ebirs35333334
HLIrs35333334
Exacrs35333334
Varsomers35333334
Maprs35333334
PheGenIrs35333334
hapmaprs35333334
1000 genomesrs35333334
hgdprs35333334
ensemblrs35333334
gopubmedrs35333334
geneviewrs35333334
scholarrs35333334
googlers35333334
pharmgkbrs35333334
gwascentralrs35333334
openSNPrs35333334
23andMers35333334
23andMe allrs35333334
SNP Nexus

SNPshotrs35333334
SNPdbers35333334
MSV3drs35333334
GWAS Ctlgrs35333334
Max Magnitude0
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 16465621OA-icon.png] 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.