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rs281864971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864971(-;-)
Make rs281864971(-;GCTG)
Make rs281864971(GCTG;GCTG)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770110
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864971
ebirs281864971
HLIrs281864971
Exacrs281864971
Varsomers281864971
Maprs281864971
PheGenIrs281864971
hapmaprs281864971
1000 genomesrs281864971
hgdprs281864971
ensemblrs281864971
gopubmedrs281864971
geneviewrs281864971
scholarrs281864971
googlers281864971
pharmgkbrs281864971
gwascentralrs281864971
openSNPrs281864971
23andMers281864971
23andMe allrs281864971
SNP Nexus

SNPshotrs281864971
SNPdbers281864971
MSV3drs281864971
GWAS Ctlgrs281864971
Max Magnitude0
ClinVar
Risk rs281864971(GCTG;GCTG)
Alt rs281864971(GCTG;GCTG)
Reference rs281864971(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102163889_102163892dupCAGC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032289.1,


[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.