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rs281865020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs281865020(-;-)
Make rs281865020(-;ACAG)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753484
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865020
ebirs281865020
HLIrs281865020
Exacrs281865020
Varsomers281865020
Maprs281865020
PheGenIrs281865020
hapmaprs281865020
1000 genomesrs281865020
hgdprs281865020
ensemblrs281865020
gopubmedrs281865020
geneviewrs281865020
scholarrs281865020
googlers281865020
pharmgkbrs281865020
gwascentralrs281865020
openSNPrs281865020
23andMers281865020
23andMe allrs281865020
SNP Nexus

SNPshotrs281865020
SNPdbers281865020
MSV3drs281865020
GWAS Ctlgrs281865020
Max Magnitude0
ClinVar
Risk rs281865020(;)
Alt rs281865020(;)
Reference rs281865020(ACAG;ACAG)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102147262_102147265delCTGT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032342.1,


[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.