rs397509201
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TATAATGCAATGG) | 6 | Likely miscall in Ancestry data; otherwise, BRCA1 variant considered pathogenic for breast cancer |
(TATAATGCAATGG;TATAATGCAATGG) | 0 | common in clinvar |
Make rs397509201(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43071029 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509201 |
dbSNP (classic) | rs397509201 |
ClinGen | rs397509201 |
ebi | rs397509201 |
HLI | rs397509201 |
Exac | rs397509201 |
Gnomad | rs397509201 |
Varsome | rs397509201 |
LitVar | rs397509201 |
Map | rs397509201 |
PheGenI | rs397509201 |
Biobank | rs397509201 |
1000 genomes | rs397509201 |
hgdp | rs397509201 |
ensembl | rs397509201 |
geneview | rs397509201 |
scholar | rs397509201 |
rs397509201 | |
pharmgkb | rs397509201 |
gwascentral | rs397509201 |
openSNP | rs397509201 |
23andMe | rs397509201 |
SNPshot | rs397509201 |
SNPdbe | rs397509201 |
MSV3d | rs397509201 |
GWAS Ctlg | rs397509201 |
Max Magnitude | 6 |
aka 4992del13, c.4873_4885delTATAATGCAATGG, and p.Tyr1625Lysfs
ClinVar | |
---|---|
Risk | rs397509201(-;-) |
Alt | rs397509201(-;-) |
Reference | Rs397509201(TATAATGCAATGG;TATAATGCAATGG) |
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.41223046_41223058delCCATTGCATTATA |
CLNSRC | ClinVar |
CLNACC | RCV000048681.2, RCV000257711.2, |