rs273897663
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(AT;CG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(GC;GC) | 0 | common in clinvar |
(GC;TA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs273897663(TA;TA) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43093969 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273897663 |
dbSNP (classic) | rs273897663 |
ClinGen | rs273897663 |
ebi | rs273897663 |
HLI | rs273897663 |
Exac | rs273897663 |
Gnomad | rs273897663 |
Varsome | rs273897663 |
LitVar | rs273897663 |
Map | rs273897663 |
PheGenI | rs273897663 |
Biobank | rs273897663 |
1000 genomes | rs273897663 |
hgdp | rs273897663 |
ensembl | rs273897663 |
geneview | rs273897663 |
scholar | rs273897663 |
rs273897663 | |
pharmgkb | rs273897663 |
gwascentral | rs273897663 |
openSNP | rs273897663 |
23andMe | rs273897663 |
SNPshot | rs273897663 |
SNPdbe | rs273897663 |
MSV3d | rs273897663 |
GWAS Ctlg | rs273897663 |
Max Magnitude | 6 |
rs273897663, also known as A521X, c.1561_1562delGCinsTA and p.Ala521Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273897663(TA;TA) |
Alt | rs273897663(TA;TA) |
Reference | Rs273897663(GC;GC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41245986_41245987delGCinsTA |
CLNSRC | ClinVar |
CLNACC | RCV000111647.2, |