rs80359336
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AAAAATC) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;AAATCAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAAAATC;AAAAATC) | 0 | common in clinvar |
Make rs80359336(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32336939 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359336 |
dbSNP (classic) | rs80359336 |
ClinGen | rs80359336 |
ebi | rs80359336 |
HLI | rs80359336 |
Exac | rs80359336 |
Gnomad | rs80359336 |
Varsome | rs80359336 |
LitVar | rs80359336 |
Map | rs80359336 |
PheGenI | rs80359336 |
Biobank | rs80359336 |
1000 genomes | rs80359336 |
hgdp | rs80359336 |
ensembl | rs80359336 |
geneview | rs80359336 |
scholar | rs80359336 |
rs80359336 | |
pharmgkb | rs80359336 |
gwascentral | rs80359336 |
openSNP | rs80359336 |
23andMe | rs80359336 |
SNPshot | rs80359336 |
SNPdbe | rs80359336 |
MSV3d | rs80359336 |
GWAS Ctlg | rs80359336 |
Merged from | Rs80359337 |
Max Magnitude | 6 |
rs80359336, also known as c.2586_2592delAAATCAA (p.Asn863fs), 2812del7, c.2584_2590delAAAAATC and p.Lys862_Gln864?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359336(-;-) rs80359336(AAATCAA;AAATCAA) |
Alt | rs80359336(-;-) rs80359336(AAATCAA;AAATCAA) |
Reference | Rs80359336(AAAAATC;AAAAATC) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32911078_32911084delAAATCAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044018.2, RCV000113066.4, |