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rs281865025

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865025(A;A)
Make rs281865025(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780152
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865025
ebirs281865025
HLIrs281865025
Exacrs281865025
Varsomers281865025
Maprs281865025
PheGenIrs281865025
hapmaprs281865025
1000 genomesrs281865025
hgdprs281865025
ensemblrs281865025
gopubmedrs281865025
geneviewrs281865025
scholarrs281865025
googlers281865025
pharmgkbrs281865025
gwascentralrs281865025
openSNPrs281865025
23andMers281865025
23andMe allrs281865025
SNP Nexus

SNPshotrs281865025
SNPdbers281865025
MSV3drs281865025
GWAS Ctlgrs281865025
Max Magnitude0
ClinVar
Risk rs281865025(A;A)
Alt rs281865025(A;A)
Reference rs281865025(G;G)
Significance Pathogenic
Disease Mucolipidosis III alpha/beta Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Mucolipidosis III alpha/beta, atypical Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102173930C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002888.3, RCV000031990.2,


[PMID 15633164] A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.