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rs34788341

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34788341(G;G)
Make rs34788341(G;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position101757566
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34788341
ebirs34788341
HLIrs34788341
Exacrs34788341
Varsomers34788341
Maprs34788341
PheGenIrs34788341
hapmaprs34788341
1000 genomesrs34788341
hgdprs34788341
ensemblrs34788341
gopubmedrs34788341
geneviewrs34788341
scholarrs34788341
googlers34788341
pharmgkbrs34788341
gwascentralrs34788341
openSNPrs34788341
23andMers34788341
23andMe allrs34788341
SNP Nexus

SNPshotrs34788341
SNPdbers34788341
MSV3drs34788341
GWAS Ctlgrs34788341
Max Magnitude0
ClinVar
Risk rs34788341(G;G)
Alt rs34788341(G;G)
Reference rs34788341(T;T)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy Mucopolysaccharidosis I cell disease
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A I cell disease
Reversed 1
HGVS NC_000012.11:g.102151344A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002902.4, RCV000031982.2, RCV000032336.1,



[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.