rs80338908
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | tendency for multiple cutaneous and mucosal venous malformations |
| Make rs80338908(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 27206762 |
| Gene | TEK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338908 |
| dbSNP (classic) | rs80338908 |
| ClinGen | rs80338908 |
| ebi | rs80338908 |
| HLI | rs80338908 |
| Exac | rs80338908 |
| Gnomad | rs80338908 |
| Varsome | rs80338908 |
| LitVar | rs80338908 |
| Map | rs80338908 |
| PheGenI | rs80338908 |
| Biobank | rs80338908 |
| 1000 genomes | rs80338908 |
| hgdp | rs80338908 |
| ensembl | rs80338908 |
| geneview | rs80338908 |
| scholar | rs80338908 |
| rs80338908 | |
| pharmgkb | rs80338908 |
| gwascentral | rs80338908 |
| openSNP | rs80338908 |
| 23andMe | rs80338908 |
| SNPshot | rs80338908 |
| SNPdbe | rs80338908 |
| MSV3d | rs80338908 |
| GWAS Ctlg | rs80338908 |
| Max Magnitude | 5 |
rs80338908, also known as c.2545C>T, p.Arg849Trp and R849W, represents a mutation in the TEK gene on chromosome 9.
The rare minor allele for this SNP is reported to cause Multiple cutaneous and mucosal venous malformations.
| ClinVar | |
|---|---|
| Risk | rs80338908(T;T) |
| Alt | rs80338908(T;T) |
| Reference | Rs80338908(C;C) |
| Significance | Pathogenic |
| Disease | Multiple Cutaneous and Mucosal Venous Malformations |
| Variation | info |
| Gene | TEK |
| CLNDBN | Multiple Cutaneous and Mucosal Venous Malformations |
| Reversed | 0 |
| HGVS | NC_000009.11:g.27206760C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009876.2, |
[PMID 8415706
] Tie-1 and tie-2 define another class of putative receptor tyrosine kinase genes expressed in early embryonic vascular system.
[PMID 8980225] Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.
[PMID 9926914] Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response.
[PMID 23566851] Association study between of Tie2/angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations
