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rs34901902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCAA;CTCAA) 0 common in clinvar
(TCAAC;TCAAC) 0 common in clinvar
Make rs34901902(-;-)
Make rs34901902(-;ACTCA)
Make rs34901902(ACTCA;ACTCA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764862
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34901902
ebirs34901902
HLIrs34901902
Exacrs34901902
Varsomers34901902
Maprs34901902
PheGenIrs34901902
hapmaprs34901902
1000 genomesrs34901902
hgdprs34901902
ensemblrs34901902
gopubmedrs34901902
geneviewrs34901902
scholarrs34901902
googlers34901902
pharmgkbrs34901902
gwascentralrs34901902
openSNPrs34901902
23andMers34901902
23andMe allrs34901902
SNP Nexus

SNPshotrs34901902
SNPdbers34901902
MSV3drs34901902
GWAS Ctlgrs34901902
Max Magnitude0
ClinVar
Risk rs34901902(;)
Alt rs34901902(;)
Reference rs34901902(TCAAC;TCAAC)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GNPTAB
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000012.11:g.102158640_102158644delTGAGT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031971.2,


[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.