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.
