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rs142172397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs142172397(C;C)
Make rs142172397(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764932
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs142172397
ebirs142172397
HLIrs142172397
Exacrs142172397
Varsomers142172397
Maprs142172397
PheGenIrs142172397
hapmaprs142172397
1000 genomesrs142172397
hgdprs142172397
ensemblrs142172397
gopubmedrs142172397
geneviewrs142172397
scholarrs142172397
googlers142172397
pharmgkbrs142172397
gwascentralrs142172397
openSNPrs142172397
23andMers142172397
23andMe allrs142172397
SNP Nexus

SNPshotrs142172397
SNPdbers142172397
MSV3drs142172397
GWAS Ctlgrs142172397
Max Magnitude0
ClinVar
Risk rs142172397(C;C)
Alt rs142172397(C;C)
Reference rs142172397(G;G)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 0
HGVS NC_000012.11:g.102158710G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000031970.2,


[PMID 16094673] Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.