rs387906563
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common/normal |
(-;AGCCATGTGG) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs387906563(AGCCATGTGG;AGCCATGTGG) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43094706 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906563 |
dbSNP (classic) | rs387906563 |
ClinGen | rs387906563 |
ebi | rs387906563 |
HLI | rs387906563 |
Exac | rs387906563 |
Gnomad | rs387906563 |
Varsome | rs387906563 |
LitVar | rs387906563 |
Map | rs387906563 |
PheGenI | rs387906563 |
Biobank | rs387906563 |
1000 genomes | rs387906563 |
hgdp | rs387906563 |
ensembl | rs387906563 |
geneview | rs387906563 |
scholar | rs387906563 |
rs387906563 | |
pharmgkb | rs387906563 |
gwascentral | rs387906563 |
openSNP | rs387906563 |
23andMe | rs387906563 |
SNPshot | rs387906563 |
SNPdbe | rs387906563 |
MSV3d | rs387906563 |
GWAS Ctlg | rs387906563 |
Max Magnitude | 6 |
rs387906563, also known as c.787+28_787+37dup, 943ins10, c.824_825insAGCCATGTGG and p.Thr276Alafs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs387906563(GAGCCATGTGGC;GAGCCATGTGGC) rs387906563(AGCCATGTGGC;AGCCATGTGGC) |
Alt | rs387906563(GAGCCATGTGGC;GAGCCATGTGGC) rs387906563(AGCCATGTGGC;AGCCATGTGGC) |
Reference | Rs387906563(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast |
Variation | info |
Gene | |
CLNDBN | Familial cancer of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41246724_41246733dupCCACATGGCT; NC_000017.10:g.41246724_41246734dupCCACATGGCTC |
CLNSRC | |
CLNACC | RCV000074602.2, RCV000049155.2, |