Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTTG;TTTG) 0 common in clinvar
Make rs281865018(-;-)
Make rs281865018(-;TTTG)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753528
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865018
ebirs281865018
HLIrs281865018
Exacrs281865018
Varsomers281865018
Maprs281865018
PheGenIrs281865018
hapmaprs281865018
1000 genomesrs281865018
hgdprs281865018
ensemblrs281865018
gopubmedrs281865018
geneviewrs281865018
scholarrs281865018
googlers281865018
pharmgkbrs281865018
gwascentralrs281865018
openSNPrs281865018
23andMers281865018
23andMe allrs281865018
SNP Nexus

SNPshotrs281865018
SNPdbers281865018
MSV3drs281865018
GWAS Ctlgrs281865018
Max Magnitude0
ClinVar
Risk rs281865018(;)
Alt rs281865018(;)
Reference rs281865018(TTTG;TTTG)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102147306_102147309delCAAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032340.1,


[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.