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rs281865021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATGTTCC;ATGTTCC) 0 common in clinvar
Make rs281865021(-;-)
Make rs281865021(-;ATGTTCC)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753445
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865021
ebirs281865021
HLIrs281865021
Exacrs281865021
Varsomers281865021
Maprs281865021
PheGenIrs281865021
hapmaprs281865021
1000 genomesrs281865021
hgdprs281865021
ensemblrs281865021
gopubmedrs281865021
geneviewrs281865021
scholarrs281865021
googlers281865021
pharmgkbrs281865021
gwascentralrs281865021
openSNPrs281865021
23andMers281865021
23andMe allrs281865021
SNP Nexus

SNPshotrs281865021
SNPdbers281865021
MSV3drs281865021
GWAS Ctlgrs281865021
Max Magnitude0
ClinVar
Risk rs281865021(;)
Alt rs281865021(;)
Reference rs281865021(ATGTTCC;ATGTTCC)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102147223_102147229delGGAACAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032343.1,


[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.