rs80359877
From SNPedia
| Merged into | rs80357696 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TGTCCCATCTG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (TGTCCCATCTG;TGTCCCATCTG) | 0 | common in clinvar |
| Make rs80359877(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43124017 |
| Gene | BRCA1, NBR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80359877 |
| dbSNP (classic) | rs80359877 |
| ClinGen | rs80359877 |
| ebi | rs80359877 |
| HLI | rs80359877 |
| Exac | rs80359877 |
| Gnomad | rs80359877 |
| Varsome | rs80359877 |
| LitVar | rs80359877 |
| Map | rs80359877 |
| PheGenI | rs80359877 |
| Biobank | rs80359877 |
| 1000 genomes | rs80359877 |
| hgdp | rs80359877 |
| ensembl | rs80359877 |
| geneview | rs80359877 |
| scholar | rs80359877 |
| rs80359877 | |
| pharmgkb | rs80359877 |
| gwascentral | rs80359877 |
| openSNP | rs80359877 |
| 23andMe | rs80359877 |
| SNPshot | rs80359877 |
| SNPdbe | rs80359877 |
| MSV3d | rs80359877 |
| GWAS Ctlg | rs80359877 |
| Status | Merged into rs80357696 |
| Max Magnitude | 6 |
rs80359877, also known as 189del11, c.70_80del and p.Cys24_Cys27?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs80359877(TGTCCCATCTG;TGTCCCATCTG) |
| Significance | Pathogenic |
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | NBR2 BRCA1 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41276034_41276044delCAGATGGGACA |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000049106.3, RCV000111682.3, RCV000131391.3, |
