rs80359521
From SNPedia
Merged into | rs80359520 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TTAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AATT;AATT) | 0 | common in clinvar |
(TTAA;TTAA) | 0 | common in clinvar |
Make rs80359521(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32339931 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359521 |
dbSNP (classic) | rs80359521 |
ClinGen | rs80359521 |
ebi | rs80359521 |
HLI | rs80359521 |
Exac | rs80359521 |
Gnomad | rs80359521 |
Varsome | rs80359521 |
LitVar | rs80359521 |
Map | rs80359521 |
PheGenI | rs80359521 |
Biobank | rs80359521 |
1000 genomes | rs80359521 |
hgdp | rs80359521 |
ensembl | rs80359521 |
geneview | rs80359521 |
scholar | rs80359521 |
rs80359521 | |
pharmgkb | rs80359521 |
gwascentral | rs80359521 |
openSNP | rs80359521 |
23andMe | rs80359521 |
SNPshot | rs80359521 |
SNPdbe | rs80359521 |
MSV3d | rs80359521 |
GWAS Ctlg | rs80359521 |
Status | Merged into rs80359520 |
Max Magnitude | 6 |
rs80359521, also known as 5804del4, c.5576_5579delTTAA and p.Ile1859_Lys1860?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
Due to repeating nucleotides in this exact area, this SNP is equivalent to rs770318608 and rs80359520.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80359521(AATT;AATT) |
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) Inc. |
CLNACC | RCV000031556.10, RCV000044684.5, RCV000131118.4, RCV000160296.3, |