rs80359607
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(-;TT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(TT;TT) | 0 | common in clinvar |
Make rs80359607(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340955 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359607 |
dbSNP (classic) | rs80359607 |
ClinGen | rs80359607 |
ebi | rs80359607 |
HLI | rs80359607 |
Exac | rs80359607 |
Gnomad | rs80359607 |
Varsome | rs80359607 |
LitVar | rs80359607 |
Map | rs80359607 |
PheGenI | rs80359607 |
Biobank | rs80359607 |
1000 genomes | rs80359607 |
hgdp | rs80359607 |
ensembl | rs80359607 |
geneview | rs80359607 |
scholar | rs80359607 |
rs80359607 | |
pharmgkb | rs80359607 |
gwascentral | rs80359607 |
openSNP | rs80359607 |
23andMe | rs80359607 |
SNPshot | rs80359607 |
SNPdbe | rs80359607 |
MSV3d | rs80359607 |
GWAS Ctlg | rs80359607 |
Max Magnitude | 6 |
rs80359607, also known as 6828delTT, c.6600_6601delTT and p.Phe2200_Ser2201PheTerfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359607(-;-) |
Alt | rs80359607(-;-) |
Reference | Rs80359607(TT;TT) |
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.32915092_32915093delTT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044990.4, RCV000113611.3, RCV000162932.2, RCV000485787.1, |