rs80338851
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80338851(A;A) |
Make rs80338851(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 31269278 |
Gene | B3GLCT |
is a | snp |
is | mentioned by |
dbSNP | rs80338851 |
dbSNP (classic) | rs80338851 |
ClinGen | rs80338851 |
ebi | rs80338851 |
HLI | rs80338851 |
Exac | rs80338851 |
Gnomad | rs80338851 |
Varsome | rs80338851 |
LitVar | rs80338851 |
Map | rs80338851 |
PheGenI | rs80338851 |
Biobank | rs80338851 |
1000 genomes | rs80338851 |
hgdp | rs80338851 |
ensembl | rs80338851 |
geneview | rs80338851 |
scholar | rs80338851 |
rs80338851 | |
pharmgkb | rs80338851 |
gwascentral | rs80338851 |
openSNP | rs80338851 |
23andMe | rs80338851 |
SNPshot | rs80338851 |
SNPdbe | rs80338851 |
MSV3d | rs80338851 |
GWAS Ctlg | rs80338851 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80338851(A;A) |
Alt | rs80338851(A;A) |
Reference | Rs80338851(G;G) |
Significance | Pathogenic |
Disease | Peters plus syndrome not provided |
Variation | info |
Gene | B3GLCT |
CLNDBN | Peters plus syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.31843415G>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000001326.3, RCV000082789.5, |
[PMID 16909395] Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
[PMID 18199743] Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
[PMID 23213277] Absence of NR2E1 mutations in patients with aniridia.