rs80359525
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGTAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AGTAA;AGTAA) | 0 | common in clinvar |
Make rs80359525(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339971 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359525 |
dbSNP (classic) | rs80359525 |
ClinGen | rs80359525 |
ebi | rs80359525 |
HLI | rs80359525 |
Exac | rs80359525 |
Gnomad | rs80359525 |
Varsome | rs80359525 |
LitVar | rs80359525 |
Map | rs80359525 |
PheGenI | rs80359525 |
Biobank | rs80359525 |
1000 genomes | rs80359525 |
hgdp | rs80359525 |
ensembl | rs80359525 |
geneview | rs80359525 |
scholar | rs80359525 |
rs80359525 | |
pharmgkb | rs80359525 |
gwascentral | rs80359525 |
openSNP | rs80359525 |
23andMe | rs80359525 |
SNPshot | rs80359525 |
SNPdbe | rs80359525 |
MSV3d | rs80359525 |
GWAS Ctlg | rs80359525 |
Max Magnitude | 6 |
rs80359525, also known as 5844del5, c.5616_5620delAGTAA and p.Lys1872_Ile1874?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359525(-;-) |
Alt | rs80359525(-;-) |
Reference | Rs80359525(AGTAA;AGTAA) |
Significance | Pathogenic |
Disease | not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32914108_32914112delAGTAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044697.6, RCV000077356.6, RCV000131113.3, RCV000195403.2, RCV000473703.1, |