rs80359264
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs80359264(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32332616 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359264 |
dbSNP (classic) | rs80359264 |
ClinGen | rs80359264 |
ebi | rs80359264 |
HLI | rs80359264 |
Exac | rs80359264 |
Gnomad | rs80359264 |
Varsome | rs80359264 |
LitVar | rs80359264 |
Map | rs80359264 |
PheGenI | rs80359264 |
Biobank | rs80359264 |
1000 genomes | rs80359264 |
hgdp | rs80359264 |
ensembl | rs80359264 |
geneview | rs80359264 |
scholar | rs80359264 |
rs80359264 | |
pharmgkb | rs80359264 |
gwascentral | rs80359264 |
openSNP | rs80359264 |
23andMe | rs80359264 |
SNPshot | rs80359264 |
SNPdbe | rs80359264 |
MSV3d | rs80359264 |
GWAS Ctlg | rs80359264 |
Merged from | Rs864622302 |
Max Magnitude | 6 |
rs80359264, also known as 1366delA, c.1138_1138delA and p.Ser380Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i709063
ClinVar | |
---|---|
Risk | rs80359264(-;-) |
Alt | rs80359264(-;-) |
Reference | Rs80359264(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32906753delA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000043744.5, RCV000077251.5, RCV000132193.2, |