rs80359412
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AAAT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAAT;AAAT) | 0 | common in clinvar |
(AATA;AATA) | 0 | common in clinvar |
Make rs80359412(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32338220 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359412 |
dbSNP (classic) | rs80359412 |
ClinGen | rs80359412 |
ebi | rs80359412 |
HLI | rs80359412 |
Exac | rs80359412 |
Gnomad | rs80359412 |
Varsome | rs80359412 |
LitVar | rs80359412 |
Map | rs80359412 |
PheGenI | rs80359412 |
Biobank | rs80359412 |
1000 genomes | rs80359412 |
hgdp | rs80359412 |
ensembl | rs80359412 |
geneview | rs80359412 |
scholar | rs80359412 |
rs80359412 | |
pharmgkb | rs80359412 |
gwascentral | rs80359412 |
openSNP | rs80359412 |
23andMe | rs80359412 |
SNPshot | rs80359412 |
SNPdbe | rs80359412 |
MSV3d | rs80359412 |
GWAS Ctlg | rs80359412 |
Max Magnitude | 6 |
rs80359412, also known as 4093del4, c.3865_3868delAAAT and p.Lys1289_Cys1290?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i5009157
ClinVar | |
---|---|
Risk | rs80359412(-;-) |
Alt | rs80359412(-;-) |
Reference | Rs80359412(AATA;AATA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32912357_32912360delAAAT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031443.8, RCV000044292.3, RCV000216772.1, RCV000412719.1, |