rs281865021
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ATGTTCC;ATGTTCC) | 0 | common in clinvar |
Make rs281865021(-;-) |
Make rs281865021(-;ATGTTCC) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101753445 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs281865021 |
dbSNP (classic) | rs281865021 |
ClinGen | rs281865021 |
ebi | rs281865021 |
HLI | rs281865021 |
Exac | rs281865021 |
Gnomad | rs281865021 |
Varsome | rs281865021 |
LitVar | rs281865021 |
Map | rs281865021 |
PheGenI | rs281865021 |
Biobank | rs281865021 |
1000 genomes | rs281865021 |
hgdp | rs281865021 |
ensembl | rs281865021 |
geneview | rs281865021 |
scholar | rs281865021 |
rs281865021 | |
pharmgkb | rs281865021 |
gwascentral | rs281865021 |
openSNP | rs281865021 |
23andMe | rs281865021 |
SNPshot | rs281865021 |
SNPdbe | rs281865021 |
MSV3d | rs281865021 |
GWAS Ctlg | rs281865021 |
Max Magnitude | 0 |
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.