rs80357516
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TAGT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80357516(TAGT;TAGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093653 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357516 |
dbSNP (classic) | rs80357516 |
ClinGen | rs80357516 |
ebi | rs80357516 |
HLI | rs80357516 |
Exac | rs80357516 |
Gnomad | rs80357516 |
Varsome | rs80357516 |
LitVar | rs80357516 |
Map | rs80357516 |
PheGenI | rs80357516 |
Biobank | rs80357516 |
1000 genomes | rs80357516 |
hgdp | rs80357516 |
ensembl | rs80357516 |
geneview | rs80357516 |
scholar | rs80357516 |
rs80357516 | |
pharmgkb | rs80357516 |
gwascentral | rs80357516 |
openSNP | rs80357516 |
23andMe | rs80357516 |
SNPshot | rs80357516 |
SNPdbe | rs80357516 |
MSV3d | rs80357516 |
GWAS Ctlg | rs80357516 |
Max Magnitude | 6 |
rs80357516, also known as 1996ins4, c.1877_1878insTAGT and p.Val626?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357516(TAGT;TAGT) |
Alt | rs80357516(TAGT;TAGT) |
Reference | Rs80357516(;) |
Significance | Untested |
Disease | Familial cancer of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41245671_41245674dupACTA |
CLNSRC | |
CLNACC | RCV000047615.2, |