rs80357712
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAATC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;ATCAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AAATC;AAATC) | 0 | common/normal |
(ATCAA;ATCAA) | 0 | common in clinvar |
Make rs80357712(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43092803 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357712 |
dbSNP (classic) | rs80357712 |
ClinGen | rs80357712 |
ebi | rs80357712 |
HLI | rs80357712 |
Exac | rs80357712 |
Gnomad | rs80357712 |
Varsome | rs80357712 |
LitVar | rs80357712 |
Map | rs80357712 |
PheGenI | rs80357712 |
Biobank | rs80357712 |
1000 genomes | rs80357712 |
hgdp | rs80357712 |
ensembl | rs80357712 |
geneview | rs80357712 |
scholar | rs80357712 |
rs80357712 | |
pharmgkb | rs80357712 |
gwascentral | rs80357712 |
openSNP | rs80357712 |
23andMe | rs80357712 |
SNPshot | rs80357712 |
SNPdbe | rs80357712 |
MSV3d | rs80357712 |
GWAS Ctlg | rs80357712 |
Merged from | Rs397509003 |
Max Magnitude | 6 |
rs80357712, also known as 2843del5, c.2724_2728delAAATC and p.Glu908_Gln910?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | Rs80357712(ATCAA;ATCAA) rs80357712(-;-) |
Alt | Rs80357712(ATCAA;ATCAA) rs80357712(-;-) |
Reference | Rs80357712(AAATC;AAATC) |
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 | 1 |
HGVS | NC_000017.10:g.41244818_41244822delTTGAT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047945.2, RCV000111923.3, |