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rs34002892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(I;I) 0
(TC;TC) 0 common in complete genomics
Make rs34002892(-;-)
Make rs34002892(-;TC)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753470
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34002892
ebirs34002892
HLIrs34002892
Exacrs34002892
Varsomers34002892
Maprs34002892
PheGenIrs34002892
hapmaprs34002892
1000 genomesrs34002892
hgdprs34002892
ensemblrs34002892
gopubmedrs34002892
geneviewrs34002892
scholarrs34002892
googlers34002892
pharmgkbrs34002892
gwascentralrs34002892
openSNPrs34002892
23andMers34002892
23andMe allrs34002892
SNP Nexus

SNPshotrs34002892
SNPdbers34002892
MSV3drs34002892
GWAS Ctlgrs34002892
Max Magnitude0
OMIM607840
DescN-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Variant
Relatedalso


ClinVar
Risk rs34002892(;)
Alt rs34002892(;)
Reference rs34002892(TC;TC)
Significance Pathogenic
Disease I cell disease Pseudo-Hurler polydystrophy not provided
Variation info
Gene GNPTAB
CLNDBN I cell disease Pseudo-Hurler polydystrophy not provided
Reversed 1
HGVS NC_000012.11:g.102147248_102147249delGA
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002899.7, RCV000002900.6, RCV000082192.4,



[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.


[PMID 18190596] Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.