rs80358840
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80358840(A;G) |
Make rs80358840(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340392 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358840 |
dbSNP (classic) | rs80358840 |
ClinGen | rs80358840 |
ebi | rs80358840 |
HLI | rs80358840 |
Exac | rs80358840 |
Gnomad | rs80358840 |
Varsome | rs80358840 |
LitVar | rs80358840 |
Map | rs80358840 |
PheGenI | rs80358840 |
Biobank | rs80358840 |
1000 genomes | rs80358840 |
hgdp | rs80358840 |
ensembl | rs80358840 |
geneview | rs80358840 |
scholar | rs80358840 |
rs80358840 | |
pharmgkb | rs80358840 |
gwascentral | rs80358840 |
openSNP | rs80358840 |
23andMe | rs80358840 |
SNPshot | rs80358840 |
SNPdbe | rs80358840 |
MSV3d | rs80358840 |
GWAS Ctlg | rs80358840 |
Max Magnitude | 6 |
rs80358840, also known as K2013X, c.6037A>T and p.Lys2013Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358840(G;G) rs80358840(T;T) |
Alt | rs80358840(G;G) rs80358840(T;T) |
Reference | Rs80358840(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32914529A>G; NC_000013.10:g.32914529A>T |
CLNSRC | ClinVar Ambry Genetics |
CLNACC | RCV000044826.3, RCV000083121.3, RCV000162633.1, RCV000031597.9, RCV000044827.4, RCV000131111.3, RCV000217667.2, |