rs80359520
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ATTA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TTAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AATT;AATT) | 0 | common in clinvar |
(ATTA;ATTA) | 0 | common in clinvar |
Make rs80359520(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 13 |
Position | 32339930 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359520 |
dbSNP (classic) | rs80359520 |
ClinGen | rs80359520 |
ebi | rs80359520 |
HLI | rs80359520 |
Exac | rs80359520 |
Gnomad | rs80359520 |
Varsome | rs80359520 |
LitVar | rs80359520 |
Map | rs80359520 |
PheGenI | rs80359520 |
Biobank | rs80359520 |
1000 genomes | rs80359520 |
hgdp | rs80359520 |
ensembl | rs80359520 |
geneview | rs80359520 |
scholar | rs80359520 |
rs80359520 | |
pharmgkb | rs80359520 |
gwascentral | rs80359520 |
openSNP | rs80359520 |
23andMe | rs80359520 |
SNPshot | rs80359520 |
SNPdbe | rs80359520 |
MSV3d | rs80359520 |
GWAS Ctlg | rs80359520 |
Merged from | Rs770318608, Rs80359521 |
Max Magnitude | 6 |
rs80359520, also known as 5803del4, c.5575_5578delATTA and p.Ile1859_Lys1860?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359520(-;-) Rs80359520(AATT;AATT) rs80359520(TTAA;TTAA) |
Alt | rs80359520(-;-) Rs80359520(AATT;AATT) rs80359520(TTAA;TTAA) |
Reference | Rs80359520(ATTA;ATTA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32914068_32914071delTTAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031556.11, RCV000044684.6, RCV000131118.4, RCV000160296.4, |