rs80358717
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80358717(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32326257 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358717 |
dbSNP (classic) | rs80358717 |
ClinGen | rs80358717 |
ebi | rs80358717 |
HLI | rs80358717 |
Exac | rs80358717 |
Gnomad | rs80358717 |
Varsome | rs80358717 |
LitVar | rs80358717 |
Map | rs80358717 |
PheGenI | rs80358717 |
Biobank | rs80358717 |
1000 genomes | rs80358717 |
hgdp | rs80358717 |
ensembl | rs80358717 |
geneview | rs80358717 |
scholar | rs80358717 |
rs80358717 | |
pharmgkb | rs80358717 |
gwascentral | rs80358717 |
openSNP | rs80358717 |
23andMe | rs80358717 |
SNPshot | rs80358717 |
SNPdbe | rs80358717 |
MSV3d | rs80358717 |
GWAS Ctlg | rs80358717 |
Max Magnitude | 6 |
rs80358717, also known as L164X, c.491T>A and p.Leu164Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358717(A;A) |
Alt | rs80358717(A;A) |
Reference | Rs80358717(T;T) |
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.32900394T>A |
CLNSRC | ClinVar |
CLNACC | RCV000044521.2, RCV000113680.2, |