rs80357877
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GAAGATACTAG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GAAGATACTAG;GAAGATACTAG) | 0 | Normal |
Make rs80357877(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43092040 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357877 |
dbSNP (classic) | rs80357877 |
ClinGen | rs80357877 |
ebi | rs80357877 |
HLI | rs80357877 |
Exac | rs80357877 |
Gnomad | rs80357877 |
Varsome | rs80357877 |
LitVar | rs80357877 |
Map | rs80357877 |
PheGenI | rs80357877 |
Biobank | rs80357877 |
1000 genomes | rs80357877 |
hgdp | rs80357877 |
ensembl | rs80357877 |
geneview | rs80357877 |
scholar | rs80357877 |
rs80357877 | |
pharmgkb | rs80357877 |
gwascentral | rs80357877 |
openSNP | rs80357877 |
23andMe | rs80357877 |
SNPshot | rs80357877 |
SNPdbe | rs80357877 |
MSV3d | rs80357877 |
GWAS Ctlg | rs80357877 |
Merged from | Rs80357910 |
Max Magnitude | 6 |
rs80357877, also known as 3600del11, c.3481_3491delGAAGATACTAG and p.Glu1161_Ser1164?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357877(AGGAAGATACT;AGGAAGATACT) rs80357877(-;-) |
Alt | rs80357877(AGGAAGATACT;AGGAAGATACT) rs80357877(-;-) |
Reference | Rs80357877(GAAGATACTAG;GAAGATACTAG) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41244057_41244067delCTAGTATCTTC |
CLNSRC | Breast Cancer Information Core (BRCA1) OMIM Allelic Variant |
CLNACC | RCV000019254.15, RCV000048211.6, RCV000131815.4, RCV000159917.3, |