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rs281864996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAAAA;GAAAA) 0 common in clinvar
Make rs281864996(-;-)
Make rs281864996(-;GAAAA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764363
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864996
ebirs281864996
HLIrs281864996
Exacrs281864996
Varsomers281864996
Maprs281864996
PheGenIrs281864996
hapmaprs281864996
1000 genomesrs281864996
hgdprs281864996
ensemblrs281864996
gopubmedrs281864996
geneviewrs281864996
scholarrs281864996
googlers281864996
pharmgkbrs281864996
gwascentralrs281864996
openSNPrs281864996
23andMers281864996
23andMe allrs281864996
SNP Nexus

SNPshotrs281864996
SNPdbers281864996
MSV3drs281864996
GWAS Ctlgrs281864996
Max Magnitude0
ClinVar
Risk rs281864996(;)
Alt rs281864996(;)
Reference rs281864996(GAAAA;GAAAA)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158141_102158145delTTTTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032320.1,


[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.