rs80357605
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TCAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TCAA;TCAA) | 0 | common in clinvar |
Make rs80357605(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092801 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357605 |
dbSNP (classic) | rs80357605 |
ClinGen | rs80357605 |
ebi | rs80357605 |
HLI | rs80357605 |
Exac | rs80357605 |
Gnomad | rs80357605 |
Varsome | rs80357605 |
LitVar | rs80357605 |
Map | rs80357605 |
PheGenI | rs80357605 |
Biobank | rs80357605 |
1000 genomes | rs80357605 |
hgdp | rs80357605 |
ensembl | rs80357605 |
geneview | rs80357605 |
scholar | rs80357605 |
rs80357605 | |
pharmgkb | rs80357605 |
gwascentral | rs80357605 |
openSNP | rs80357605 |
23andMe | rs80357605 |
SNPshot | rs80357605 |
SNPdbe | rs80357605 |
MSV3d | rs80357605 |
GWAS Ctlg | rs80357605 |
Merged from | Rs80357917 |
Max Magnitude | 6 |
rs80357605, also known as 2846del4, c.2727_2730delTCAA and p.Asn909_Gln910?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357605(AATC;AATC) rs80357605(-;-) |
Alt | rs80357605(AATC;AATC) rs80357605(-;-) |
Reference | Rs80357605(TCAA;TCAA) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41244818_41244821delTTGA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047948.4, RCV000083188.8, RCV000162859.1, |