rs80357844
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | Normal |
Make rs80357844(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094602 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357844 |
dbSNP (classic) | rs80357844 |
ClinGen | rs80357844 |
ebi | rs80357844 |
HLI | rs80357844 |
Exac | rs80357844 |
Gnomad | rs80357844 |
Varsome | rs80357844 |
LitVar | rs80357844 |
Map | rs80357844 |
PheGenI | rs80357844 |
Biobank | rs80357844 |
1000 genomes | rs80357844 |
hgdp | rs80357844 |
ensembl | rs80357844 |
geneview | rs80357844 |
scholar | rs80357844 |
rs80357844 | |
pharmgkb | rs80357844 |
gwascentral | rs80357844 |
openSNP | rs80357844 |
23andMe | rs80357844 |
SNPshot | rs80357844 |
SNPdbe | rs80357844 |
MSV3d | rs80357844 |
GWAS Ctlg | rs80357844 |
Max Magnitude | 6 |
rs80357844, also known as 1048delA, c.929_929delA and p.Gln310Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80357844(-;-) |
Alt | rs80357844(-;-) |
Reference | Rs80357844(A;A) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41246619delT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031289.8, RCV000049194.2, RCV000131986.2, RCV000235314.1, |