rs273897658
From SNPedia
Merged into | rs80357770 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(A;A) | 0 | common in clinvar |
Make rs273897658(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43094144 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273897658 |
dbSNP (classic) | rs273897658 |
ClinGen | rs273897658 |
ebi | rs273897658 |
HLI | rs273897658 |
Exac | rs273897658 |
Gnomad | rs273897658 |
Varsome | rs273897658 |
LitVar | rs273897658 |
Map | rs273897658 |
PheGenI | rs273897658 |
Biobank | rs273897658 |
1000 genomes | rs273897658 |
hgdp | rs273897658 |
ensembl | rs273897658 |
geneview | rs273897658 |
scholar | rs273897658 |
rs273897658 | |
pharmgkb | rs273897658 |
gwascentral | rs273897658 |
openSNP | rs273897658 |
23andMe | rs273897658 |
SNPshot | rs273897658 |
SNPdbe | rs273897658 |
MSV3d | rs273897658 |
GWAS Ctlg | rs273897658 |
Status | Merged into rs80357770 |
Max Magnitude | 6 |
rs273897658, also known as 1506delA, c.1387_1387delA and p.Lys463=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs273897658(A;A) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41246158delT |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000047457.2, RCV000111604.4, |