rs80357853
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | Normal |
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80357853(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093569 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357853 |
dbSNP (classic) | rs80357853 |
ClinGen | rs80357853 |
ebi | rs80357853 |
HLI | rs80357853 |
Exac | rs80357853 |
Gnomad | rs80357853 |
Varsome | rs80357853 |
LitVar | rs80357853 |
Map | rs80357853 |
PheGenI | rs80357853 |
Biobank | rs80357853 |
1000 genomes | rs80357853 |
hgdp | rs80357853 |
ensembl | rs80357853 |
geneview | rs80357853 |
scholar | rs80357853 |
rs80357853 | |
pharmgkb | rs80357853 |
gwascentral | rs80357853 |
openSNP | rs80357853 |
23andMe | rs80357853 |
SNPshot | rs80357853 |
SNPdbe | rs80357853 |
MSV3d | rs80357853 |
GWAS Ctlg | rs80357853 |
Max Magnitude | 6 |
rs80357853, also known as 2080insA, c.1961_1962insA and p.Lys654?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357853(A;A) |
Alt | rs80357853(A;A) |
Reference | Rs80357853(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245587dupT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031018.7, RCV000047661.6, RCV000130225.2, RCV000203641.2, |