rs80358824
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80358824(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340264 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358824 |
dbSNP (classic) | rs80358824 |
ClinGen | rs80358824 |
ebi | rs80358824 |
HLI | rs80358824 |
Exac | rs80358824 |
Gnomad | rs80358824 |
Varsome | rs80358824 |
LitVar | rs80358824 |
Map | rs80358824 |
PheGenI | rs80358824 |
Biobank | rs80358824 |
1000 genomes | rs80358824 |
hgdp | rs80358824 |
ensembl | rs80358824 |
geneview | rs80358824 |
scholar | rs80358824 |
rs80358824 | |
pharmgkb | rs80358824 |
gwascentral | rs80358824 |
openSNP | rs80358824 |
23andMe | rs80358824 |
SNPshot | rs80358824 |
SNPdbe | rs80358824 |
MSV3d | rs80358824 |
GWAS Ctlg | rs80358824 |
Max Magnitude | 6 |
rs80358824, also known as S1970X, c.5909C>A and p.Ser1970Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358824(A;A) rs80358824(T;T) |
Alt | rs80358824(A;A) rs80358824(T;T) |
Reference | Rs80358824(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32914401C>A; NC_000013.10:g.32914401C>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000031588.7, RCV000131108.2, RCV000255943.1, RCV000257911.3, RCV000031589.3, RCV000228606.2, |