rs80359280
From SNPedia
Merged into | rs80359277 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AAGA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAAG;AAAG) | 0 | common in clinvar |
(AAGA;AAGA) | 0 | common in clinvar |
Make rs80359280(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32332788 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359280 |
dbSNP (classic) | rs80359280 |
ClinGen | rs80359280 |
ebi | rs80359280 |
HLI | rs80359280 |
Exac | rs80359280 |
Gnomad | rs80359280 |
Varsome | rs80359280 |
LitVar | rs80359280 |
Map | rs80359280 |
PheGenI | rs80359280 |
Biobank | rs80359280 |
1000 genomes | rs80359280 |
hgdp | rs80359280 |
ensembl | rs80359280 |
geneview | rs80359280 |
scholar | rs80359280 |
rs80359280 | |
pharmgkb | rs80359280 |
gwascentral | rs80359280 |
openSNP | rs80359280 |
23andMe | rs80359280 |
SNPshot | rs80359280 |
SNPdbe | rs80359280 |
MSV3d | rs80359280 |
GWAS Ctlg | rs80359280 |
Status | Merged into rs80359277 |
Max Magnitude | 6 |
rs80359280, also known as 1538del4, c.1310_1313delAAGA and p.Lys437_Asp438?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80359280(AAAG;AAAG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32906925_32906928delAAGA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031318.12, RCV000043779.6, RCV000131062.3, RCV000203644.2, |