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

rs281865006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865006(C;C)
Make rs281865006(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761260
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865006
ebirs281865006
HLIrs281865006
Exacrs281865006
Varsomers281865006
Maprs281865006
PheGenIrs281865006
hapmaprs281865006
1000 genomesrs281865006
hgdprs281865006
ensemblrs281865006
gopubmedrs281865006
geneviewrs281865006
scholarrs281865006
googlers281865006
pharmgkbrs281865006
gwascentralrs281865006
openSNPrs281865006
23andMers281865006
23andMe allrs281865006
SNP Nexus

SNPshotrs281865006
SNPdbers281865006
MSV3drs281865006
GWAS Ctlgrs281865006
Max Magnitude0
ClinVar
Risk rs281865006(C;C)
Alt rs281865006(C;C)
Reference rs281865006(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102155038A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032328.1,


[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.