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rs281865002

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865002(A;C)
Make rs281865002(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761702
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865002
ebirs281865002
HLIrs281865002
Exacrs281865002
Varsomers281865002
Maprs281865002
PheGenIrs281865002
hapmaprs281865002
1000 genomesrs281865002
hgdprs281865002
ensemblrs281865002
gopubmedrs281865002
geneviewrs281865002
scholarrs281865002
googlers281865002
pharmgkbrs281865002
gwascentralrs281865002
openSNPrs281865002
23andMers281865002
23andMe allrs281865002
SNP Nexus

SNPshotrs281865002
SNPdbers281865002
MSV3drs281865002
GWAS Ctlgrs281865002
Max Magnitude0
ClinVar
Risk rs281865002(C;C)
Alt rs281865002(C;C)
Reference rs281865002(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102155480T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032325.1,


[PMID 19634183] Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.