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rs281864965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCTCT;CCTCT) 0 common in clinvar
Make rs281864965(-;-)
Make rs281864965(-;CCTCT)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780164
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864965
ebirs281864965
HLIrs281864965
Exacrs281864965
Varsomers281864965
Maprs281864965
PheGenIrs281864965
hapmaprs281864965
1000 genomesrs281864965
hgdprs281864965
ensemblrs281864965
gopubmedrs281864965
geneviewrs281864965
scholarrs281864965
googlers281864965
pharmgkbrs281864965
gwascentralrs281864965
openSNPrs281864965
23andMers281864965
23andMe allrs281864965
SNP Nexus

SNPshotrs281864965
SNPdbers281864965
MSV3drs281864965
GWAS Ctlgrs281864965
Max Magnitude0
ClinVar
Risk rs281864965(;)
Alt rs281864965(;)
Reference rs281864965(CCTCT;CCTCT)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102173942_102173946delAGAGG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032356.1,


[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.