rs397509213
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397509213(C;G) |
Make rs397509213(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43067698 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs397509213 |
dbSNP (classic) | rs397509213 |
ClinGen | rs397509213 |
ebi | rs397509213 |
HLI | rs397509213 |
Exac | rs397509213 |
Gnomad | rs397509213 |
Varsome | rs397509213 |
LitVar | rs397509213 |
Map | rs397509213 |
PheGenI | rs397509213 |
Biobank | rs397509213 |
1000 genomes | rs397509213 |
hgdp | rs397509213 |
ensembl | rs397509213 |
geneview | rs397509213 |
scholar | rs397509213 |
rs397509213 | |
pharmgkb | rs397509213 |
gwascentral | rs397509213 |
openSNP | rs397509213 |
23andMe | rs397509213 |
SNPshot | rs397509213 |
SNPdbe | rs397509213 |
MSV3d | rs397509213 |
GWAS Ctlg | rs397509213 |
Max Magnitude | 0 |
aka c.4987-3C>G
Listed in ClinVar as a BRCA1 variant of uncertain significance. There is a 2012 publication that concludes it is pathogenic.[PMID 22113256]
ClinVar | |
---|---|
Risk | rs397509213(G;G) |
Alt | rs397509213(G;G) |
Reference | Rs397509213(C;C) |
Significance | Untested |
Disease | Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41219715G>C |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000048727.3, RCV000129699.3, |