Have questions? Visit https://www.reddit.com/r/SNPedia

rs34940801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs34940801(A;A)
Make rs34940801(A;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position101757571
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34940801
ebirs34940801
HLIrs34940801
Exacrs34940801
Varsomers34940801
Maprs34940801
PheGenIrs34940801
hapmaprs34940801
1000 genomesrs34940801
hgdprs34940801
ensemblrs34940801
gopubmedrs34940801
geneviewrs34940801
scholarrs34940801
googlers34940801
pharmgkbrs34940801
gwascentralrs34940801
openSNPrs34940801
23andMers34940801
23andMe allrs34940801
SNP Nexus

SNPshotrs34940801
SNPdbers34940801
MSV3drs34940801
GWAS Ctlgrs34940801
Max Magnitude0
ClinVar
Risk rs34940801(A;A)
Alt rs34940801(A;A)
Reference rs34940801(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102151349C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002901.5,



[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.