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rs281864984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864984(-;-)
Make rs281864984(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764952
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864984
ebirs281864984
HLIrs281864984
Exacrs281864984
Varsomers281864984
Maprs281864984
PheGenIrs281864984
hapmaprs281864984
1000 genomesrs281864984
hgdprs281864984
ensemblrs281864984
gopubmedrs281864984
geneviewrs281864984
scholarrs281864984
googlers281864984
pharmgkbrs281864984
gwascentralrs281864984
openSNPrs281864984
23andMers281864984
23andMe allrs281864984
SNP Nexus

SNPshotrs281864984
SNPdbers281864984
MSV3drs281864984
GWAS Ctlgrs281864984
Max Magnitude0
ClinVar
Risk rs281864984(;)
Alt rs281864984(;)
Reference rs281864984(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158730delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032307.1,


[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.