rs587782392
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs587782392(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 43071114 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs587782392 |
dbSNP (classic) | rs587782392 |
ClinGen | rs587782392 |
ebi | rs587782392 |
HLI | rs587782392 |
Exac | rs587782392 |
Gnomad | rs587782392 |
Varsome | rs587782392 |
LitVar | rs587782392 |
Map | rs587782392 |
PheGenI | rs587782392 |
Biobank | rs587782392 |
1000 genomes | rs587782392 |
hgdp | rs587782392 |
ensembl | rs587782392 |
geneview | rs587782392 |
scholar | rs587782392 |
rs587782392 | |
pharmgkb | rs587782392 |
gwascentral | rs587782392 |
openSNP | rs587782392 |
23andMe | rs587782392 |
SNPshot | rs587782392 |
SNPdbe | rs587782392 |
MSV3d | rs587782392 |
GWAS Ctlg | rs587782392 |
Max Magnitude | 6 |
BRCA1 mutation, aka c.4799dupT (p.Leu1600Phefs)
ClinVar | |
---|---|
Risk | rs587782392(T;T) |
Alt | rs587782392(T;T) |
Reference | Rs587782392(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41223132dupA |
CLNSRC | |
CLNACC | RCV000131402.1, RCV000241117.1, |