rs80359877
From SNPedia
Merged into | rs80357696 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TGTCCCATCTG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TGTCCCATCTG;TGTCCCATCTG) | 0 | common in clinvar |
Make rs80359877(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43124017 |
Gene | BRCA1, NBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359877 |
dbSNP (classic) | rs80359877 |
ClinGen | rs80359877 |
ebi | rs80359877 |
HLI | rs80359877 |
Exac | rs80359877 |
Gnomad | rs80359877 |
Varsome | rs80359877 |
LitVar | rs80359877 |
Map | rs80359877 |
PheGenI | rs80359877 |
Biobank | rs80359877 |
1000 genomes | rs80359877 |
hgdp | rs80359877 |
ensembl | rs80359877 |
geneview | rs80359877 |
scholar | rs80359877 |
rs80359877 | |
pharmgkb | rs80359877 |
gwascentral | rs80359877 |
openSNP | rs80359877 |
23andMe | rs80359877 |
SNPshot | rs80359877 |
SNPdbe | rs80359877 |
MSV3d | rs80359877 |
GWAS Ctlg | rs80359877 |
Status | Merged into rs80357696 |
Max Magnitude | 6 |
rs80359877, also known as 189del11, c.70_80del and p.Cys24_Cys27?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80359877(TGTCCCATCTG;TGTCCCATCTG) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NBR2 BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41276034_41276044delCAGATGGGACA |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000049106.3, RCV000111682.3, RCV000131391.3, |