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rs281865028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865028(C;T)
Make rs281865028(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764384
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865028
ebirs281865028
HLIrs281865028
Exacrs281865028
Varsomers281865028
Maprs281865028
PheGenIrs281865028
hapmaprs281865028
1000 genomesrs281865028
hgdprs281865028
ensemblrs281865028
gopubmedrs281865028
geneviewrs281865028
scholarrs281865028
googlers281865028
pharmgkbrs281865028
gwascentralrs281865028
openSNPrs281865028
23andMers281865028
23andMe allrs281865028
SNP Nexus

SNPshotrs281865028
SNPdbers281865028
MSV3drs281865028
GWAS Ctlgrs281865028
Max Magnitude0
ClinVar
Risk rs281865028(A,T;A,T)
Alt rs281865028(A,T;A,T)
Reference rs281865028(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158162G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031973.2,


[PMID 16200072] Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.


[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.