rs80357777
From SNPedia
Merged into | rs80357701 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AAGC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AAGC;AAGC) | 0 | common/normal |
(CAAG;CAAG) | 0 | common in clinvar |
Make rs80357777(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43092200 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357777 |
dbSNP (classic) | rs80357777 |
ClinGen | rs80357777 |
ebi | rs80357777 |
HLI | rs80357777 |
Exac | rs80357777 |
Gnomad | rs80357777 |
Varsome | rs80357777 |
LitVar | rs80357777 |
Map | rs80357777 |
PheGenI | rs80357777 |
Biobank | rs80357777 |
1000 genomes | rs80357777 |
hgdp | rs80357777 |
ensembl | rs80357777 |
geneview | rs80357777 |
scholar | rs80357777 |
rs80357777 | |
pharmgkb | rs80357777 |
gwascentral | rs80357777 |
openSNP | rs80357777 |
23andMe | rs80357777 |
SNPshot | rs80357777 |
SNPdbe | rs80357777 |
MSV3d | rs80357777 |
GWAS Ctlg | rs80357777 |
Status | Merged into rs80357701 |
Max Magnitude | 6 |
rs80357777, also known as 3447del4, c.3328_3331delAAGC and p.Lys1110_Gln1111?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80357777(CAAG;CAAG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41244214_41244217delCTTG |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031104.10, RCV000048151.5, RCV000131812.3, RCV000195363.2, |