rs80356907
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80356907(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43093586 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356907 |
dbSNP (classic) | rs80356907 |
ClinGen | rs80356907 |
ebi | rs80356907 |
HLI | rs80356907 |
Exac | rs80356907 |
Gnomad | rs80356907 |
Varsome | rs80356907 |
LitVar | rs80356907 |
Map | rs80356907 |
PheGenI | rs80356907 |
Biobank | rs80356907 |
1000 genomes | rs80356907 |
hgdp | rs80356907 |
ensembl | rs80356907 |
geneview | rs80356907 |
scholar | rs80356907 |
rs80356907 | |
pharmgkb | rs80356907 |
gwascentral | rs80356907 |
openSNP | rs80356907 |
23andMe | rs80356907 |
SNPshot | rs80356907 |
SNPdbe | rs80356907 |
MSV3d | rs80356907 |
GWAS Ctlg | rs80356907 |
Max Magnitude | 6 |
rs80356907, also known as E649X, c.1945G>T and p.Glu649Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80356907(C;C) rs80356907(T;T) |
Alt | rs80356907(C;C) rs80356907(T;T) |
Reference | Rs80356907(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41245603C>A; NC_000017.10:g.41245603C>G |
CLNSRC | ClinVar |
CLNACC | RCV000047649.2, RCV000111737.3, RCV000047648.3, RCV000111736.1, |