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rs34161232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34161232(AAA;AAA)
Make rs34161232(AAA;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764729
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34161232
ebirs34161232
HLIrs34161232
Exacrs34161232
Varsomers34161232
Maprs34161232
PheGenIrs34161232
hapmaprs34161232
1000 genomesrs34161232
hgdprs34161232
ensemblrs34161232
gopubmedrs34161232
geneviewrs34161232
scholarrs34161232
googlers34161232
pharmgkbrs34161232
gwascentralrs34161232
openSNPrs34161232
23andMers34161232
23andMe allrs34161232
SNP Nexus

SNPshotrs34161232
SNPdbers34161232
MSV3drs34161232
GWAS Ctlgrs34161232
Max Magnitude0
ClinVar
Risk rs34161232(AAA;AAA)
Alt rs34161232(AAA;AAA)
Reference rs34161232(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158507delAinsTTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031972.2,


[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.