rs80357522
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;AA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;AAAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | Normal |
Make rs80357522(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093570 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357522 |
dbSNP (classic) | rs80357522 |
ClinGen | rs80357522 |
ebi | rs80357522 |
HLI | rs80357522 |
Exac | rs80357522 |
Gnomad | rs80357522 |
Varsome | rs80357522 |
LitVar | rs80357522 |
Map | rs80357522 |
PheGenI | rs80357522 |
Biobank | rs80357522 |
1000 genomes | rs80357522 |
hgdp | rs80357522 |
ensembl | rs80357522 |
geneview | rs80357522 |
scholar | rs80357522 |
rs80357522 | |
pharmgkb | rs80357522 |
gwascentral | rs80357522 |
openSNP | rs80357522 |
23andMe | rs80357522 |
SNPshot | rs80357522 |
SNPdbe | rs80357522 |
MSV3d | rs80357522 |
GWAS Ctlg | rs80357522 |
Max Magnitude | 6 |
rs80357522 represents at least 4 BRCA1 gene mutations, known by a variety of names including c.1961dupA, c.1960_1961delAA, c.787+1171_787+1174delAAAA, c.1961del, 2080delA, c.1961_1961delA and p.Lys654Serfs; all are considered pathogenic variants for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357522(-;-) |
Alt | rs80357522(-;-) |
Reference | Rs80357522(A;A) |
Significance | Other |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41245587delT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031019.9, RCV000047660.7, RCV000130764.3, RCV000236783.2, RCV000414241.1, |