rs273900717
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;CTCAG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (AGGC;CTCAG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (CTCAG;CTCAG) | 0 | common in clinvar |
| Make rs273900717(AGGC;AGGC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43091688 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs273900717 |
| dbSNP (classic) | rs273900717 |
| ClinGen | rs273900717 |
| ebi | rs273900717 |
| HLI | rs273900717 |
| Exac | rs273900717 |
| Gnomad | rs273900717 |
| Varsome | rs273900717 |
| LitVar | rs273900717 |
| Map | rs273900717 |
| PheGenI | rs273900717 |
| Biobank | rs273900717 |
| 1000 genomes | rs273900717 |
| hgdp | rs273900717 |
| ensembl | rs273900717 |
| geneview | rs273900717 |
| scholar | rs273900717 |
| rs273900717 | |
| pharmgkb | rs273900717 |
| gwascentral | rs273900717 |
| openSNP | rs273900717 |
| 23andMe | rs273900717 |
| SNPshot | rs273900717 |
| SNPdbe | rs273900717 |
| MSV3d | rs273900717 |
| GWAS Ctlg | rs273900717 |
| Max Magnitude | 6 |
rs273900717, also known as 3958del5ins4, c.3839_3843delCTCAGinsAGGC and p.Ser1280_Gln1281TerAlafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs273900717(AGGC;AGGC) |
| Alt | rs273900717(AGGC;AGGC) |
| Reference | Rs273900717(CTCAG;CTCAG) |
| Significance | Untested |
| Disease | Familial cancer of breast |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41243705_41243709delCTGAGinsGCCT |
| CLNSRC | |
| CLNACC | RCV000048349.2, |
