rs80359277
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AAAG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAAG;AAAG) | 0 | common in clinvar |
Make rs80359277(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32332779 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359277 |
dbSNP (classic) | rs80359277 |
ClinGen | rs80359277 |
ebi | rs80359277 |
HLI | rs80359277 |
Exac | rs80359277 |
Gnomad | rs80359277 |
Varsome | rs80359277 |
LitVar | rs80359277 |
Map | rs80359277 |
PheGenI | rs80359277 |
Biobank | rs80359277 |
1000 genomes | rs80359277 |
hgdp | rs80359277 |
ensembl | rs80359277 |
geneview | rs80359277 |
scholar | rs80359277 |
rs80359277 | |
pharmgkb | rs80359277 |
gwascentral | rs80359277 |
openSNP | rs80359277 |
23andMe | rs80359277 |
SNPshot | rs80359277 |
SNPdbe | rs80359277 |
MSV3d | rs80359277 |
GWAS Ctlg | rs80359277 |
Merged from | Rs80359279, Rs80359280 |
Max Magnitude | 6 |
rs80359277, also known as c.1302_1305AAGA, 1529del4, c.1301_1304delAAAG and p.Lys434_Arg435?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359277(-;-) rs80359277(AAGA;AAGA) |
Alt | rs80359277(-;-) rs80359277(AAGA;AAGA) |
Reference | Rs80359277(AAAG;AAAG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32906925_32906928delAAGA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031318.13, RCV000043779.7, RCV000131062.3, RCV000203644.3, |