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rs34256381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs34256381(-;-)
Make rs34256381(-;CTAC)
Make rs34256381(CTAC;CTAC)
ReferenceGRCh38 38.1/141
Chromosome12
Position101760044
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34256381
ebirs34256381
HLIrs34256381
Exacrs34256381
Varsomers34256381
Maprs34256381
PheGenIrs34256381
hapmaprs34256381
1000 genomesrs34256381
hgdprs34256381
ensemblrs34256381
gopubmedrs34256381
geneviewrs34256381
scholarrs34256381
googlers34256381
pharmgkbrs34256381
gwascentralrs34256381
openSNPrs34256381
23andMers34256381
23andMe allrs34256381
SNP Nexus

SNPshotrs34256381
SNPdbers34256381
MSV3drs34256381
GWAS Ctlgrs34256381
Max Magnitude0
ClinVar
Risk rs34256381(CTAC;CTAC)
Alt rs34256381(CTAC;CTAC)
Reference rs34256381(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102153823_102153826dupGTAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031979.2,


[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.