rs80359321
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGGAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;GGAAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAGGA;AAGGA) | 0 | common in clinvar |
(AGGAA;AGGAA) | 0 | common in clinvar |
Make rs80359321(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32336439 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359321 |
dbSNP (classic) | rs80359321 |
ClinGen | rs80359321 |
ebi | rs80359321 |
HLI | rs80359321 |
Exac | rs80359321 |
Gnomad | rs80359321 |
Varsome | rs80359321 |
LitVar | rs80359321 |
Map | rs80359321 |
PheGenI | rs80359321 |
Biobank | rs80359321 |
1000 genomes | rs80359321 |
hgdp | rs80359321 |
ensembl | rs80359321 |
geneview | rs80359321 |
scholar | rs80359321 |
rs80359321 | |
pharmgkb | rs80359321 |
gwascentral | rs80359321 |
openSNP | rs80359321 |
23andMe | rs80359321 |
SNPshot | rs80359321 |
SNPdbe | rs80359321 |
MSV3d | rs80359321 |
GWAS Ctlg | rs80359321 |
Merged from | Rs886038069 |
Max Magnitude | 6 |
rs80359321, also known as 2312del5, c.2084_2088delAGGAA and p.Lys695_Glu696?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359321(-;-) rs80359321(GGAAA;GGAAA) |
Alt | rs80359321(-;-) rs80359321(GGAAA;GGAAA) |
Reference | Rs80359321(AGGAA;AGGAA) |
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.32910577_32910581delGGAAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000043941.2, RCV000241255.2, |