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rs137852897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852897(C;T)
Make rs137852897(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753409
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137852897
ebirs137852897
HLIrs137852897
Exacrs137852897
Varsomers137852897
Maprs137852897
PheGenIrs137852897
hapmaprs137852897
1000 genomesrs137852897
hgdprs137852897
ensemblrs137852897
gopubmedrs137852897
geneviewrs137852897
scholarrs137852897
googlers137852897
pharmgkbrs137852897
gwascentralrs137852897
openSNPrs137852897
23andMers137852897
23andMe allrs137852897
SNP Nexus

SNPshotrs137852897
SNPdbers137852897
MSV3drs137852897
GWAS Ctlgrs137852897
Max Magnitude0
OMIM607840
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852897(T;T)
Alt rs137852897(T;T)
Reference rs137852897(C;C)
Significance Pathogenic
Disease I cell disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN I cell disease Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102147187G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002891.5, RCV000002892.5,


[PMID 16116615] Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.


[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.