rs80357318
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | Normal |
(C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80357318(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43091594 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357318 |
dbSNP (classic) | rs80357318 |
ClinGen | rs80357318 |
ebi | rs80357318 |
HLI | rs80357318 |
Exac | rs80357318 |
Gnomad | rs80357318 |
Varsome | rs80357318 |
LitVar | rs80357318 |
Map | rs80357318 |
PheGenI | rs80357318 |
Biobank | rs80357318 |
1000 genomes | rs80357318 |
hgdp | rs80357318 |
ensembl | rs80357318 |
geneview | rs80357318 |
scholar | rs80357318 |
rs80357318 | |
pharmgkb | rs80357318 |
gwascentral | rs80357318 |
openSNP | rs80357318 |
23andMe | rs80357318 |
SNPshot | rs80357318 |
SNPdbe | rs80357318 |
MSV3d | rs80357318 |
GWAS Ctlg | rs80357318 |
Max Magnitude | 6 |
rs80357318, also known as Q1313X, c.3937C>T and p.Gln1313Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i5010136
ClinVar | |
---|---|
Risk | rs80357318(T;T) |
Alt | rs80357318(T;T) |
Reference | Rs80357318(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41243611G>A |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000031137.6, RCV000048386.3, RCV000131882.2, RCV000482757.1, |