rs67284603
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| Make rs67284603(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43094522 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67284603 |
| dbSNP (classic) | rs67284603 |
| ClinGen | rs67284603 |
| ebi | rs67284603 |
| HLI | rs67284603 |
| Exac | rs67284603 |
| Gnomad | rs67284603 |
| Varsome | rs67284603 |
| LitVar | rs67284603 |
| Map | rs67284603 |
| PheGenI | rs67284603 |
| Biobank | rs67284603 |
| 1000 genomes | rs67284603 |
| hgdp | rs67284603 |
| ensembl | rs67284603 |
| geneview | rs67284603 |
| scholar | rs67284603 |
| rs67284603 | |
| pharmgkb | rs67284603 |
| gwascentral | rs67284603 |
| openSNP | rs67284603 |
| 23andMe | rs67284603 |
| SNPshot | rs67284603 |
| SNPdbe | rs67284603 |
| MSV3d | rs67284603 |
| GWAS Ctlg | rs67284603 |
| Max Magnitude | 6 |
rs67284603, also known as 1127insA, c.1008_1009insA and p.Thr336_Glu337?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs67284603(T;T) |
| Alt | rs67284603(T;T) |
| Reference | Rs67284603(-;-) |
| Significance | Pathogenic |
| Disease | Familial cancer of breast Breast-ovarian cancer |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.41246540dupT |
| CLNSRC | Breast Cancer Information Core (BRCA1) |
| CLNACC | RCV000047307.2, RCV000111528.3, |
