rs80359575
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;GA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AG;AG) | 0 | common in clinvar |
Make rs80359575(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32329445 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359575 |
dbSNP (classic) | rs80359575 |
ClinGen | rs80359575 |
ebi | rs80359575 |
HLI | rs80359575 |
Exac | rs80359575 |
Gnomad | rs80359575 |
Varsome | rs80359575 |
LitVar | rs80359575 |
Map | rs80359575 |
PheGenI | rs80359575 |
Biobank | rs80359575 |
1000 genomes | rs80359575 |
hgdp | rs80359575 |
ensembl | rs80359575 |
geneview | rs80359575 |
scholar | rs80359575 |
rs80359575 | |
pharmgkb | rs80359575 |
gwascentral | rs80359575 |
openSNP | rs80359575 |
23andMe | rs80359575 |
SNPshot | rs80359575 |
SNPdbe | rs80359575 |
MSV3d | rs80359575 |
GWAS Ctlg | rs80359575 |
Merged from | Rs398122553 |
Max Magnitude | 6 |
rs80359575, also known as 862delAG, c.634_635delAG and p.Arg212Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359575(-;-) rs80359575(GA;GA) |
Alt | rs80359575(-;-) rs80359575(GA;GA) |
Reference | Rs80359575(AG;AG) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32903583_32903584delGA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044920.2, RCV000076962.5, RCV000483149.1, |