rs80359878
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TGTGGTGAAGGAGCTTTCATCATTCACC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TGTGGTGAAGGAGCTTTCATCATTCACC;TGTGGTGAAGGAGCTTTCATCATTCACC) | 0 | common in clinvar |
Make rs80359878(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43049130 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80359878 |
dbSNP (classic) | rs80359878 |
ClinGen | rs80359878 |
ebi | rs80359878 |
HLI | rs80359878 |
Exac | rs80359878 |
Gnomad | rs80359878 |
Varsome | rs80359878 |
LitVar | rs80359878 |
Map | rs80359878 |
PheGenI | rs80359878 |
Biobank | rs80359878 |
1000 genomes | rs80359878 |
hgdp | rs80359878 |
ensembl | rs80359878 |
geneview | rs80359878 |
scholar | rs80359878 |
rs80359878 | |
pharmgkb | rs80359878 |
gwascentral | rs80359878 |
openSNP | rs80359878 |
23andMe | rs80359878 |
SNPshot | rs80359878 |
SNPdbe | rs80359878 |
MSV3d | rs80359878 |
GWAS Ctlg | rs80359878 |
Max Magnitude | 6 |
rs80359878, also known as 5489del28, c.5370_5397del and p.Ser1790_Thr1799?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359878(-;-) |
Alt | rs80359878(-;-) |
Reference | Rs80359878(TGTGGTGAAGGAGCTTTCATCATTCACC;TGTGGTGAAGGAGCTTTCATCATTCACC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41201147_41201174del28 |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000112630.2, |