rs273897664
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs273897664(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43093835 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs273897664 |
dbSNP (classic) | rs273897664 |
ClinGen | rs273897664 |
ebi | rs273897664 |
HLI | rs273897664 |
Exac | rs273897664 |
Gnomad | rs273897664 |
Varsome | rs273897664 |
LitVar | rs273897664 |
Map | rs273897664 |
PheGenI | rs273897664 |
Biobank | rs273897664 |
1000 genomes | rs273897664 |
hgdp | rs273897664 |
ensembl | rs273897664 |
geneview | rs273897664 |
scholar | rs273897664 |
rs273897664 | |
pharmgkb | rs273897664 |
gwascentral | rs273897664 |
openSNP | rs273897664 |
23andMe | rs273897664 |
SNPshot | rs273897664 |
SNPdbe | rs273897664 |
MSV3d | rs273897664 |
GWAS Ctlg | rs273897664 |
Max Magnitude | 6 |
rs273897664, also known as 1814insG, c.1695_1696insG and p.Glu565_Lys566?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs273897664(G;G) |
Alt | rs273897664(G;G) |
Reference | Rs273897664(-;-) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41245853dupC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000111665.3, RCV000483200.1, |