rs80357580
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;TAAC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(CTAA;CTAA) | 0 | common in clinvar |
(TAAC;TAAC) | 0 | common/normal |
Make rs80357580(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43067652 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357580 |
dbSNP (classic) | rs80357580 |
ClinGen | rs80357580 |
ebi | rs80357580 |
HLI | rs80357580 |
Exac | rs80357580 |
Gnomad | rs80357580 |
Varsome | rs80357580 |
LitVar | rs80357580 |
Map | rs80357580 |
PheGenI | rs80357580 |
Biobank | rs80357580 |
1000 genomes | rs80357580 |
hgdp | rs80357580 |
ensembl | rs80357580 |
geneview | rs80357580 |
scholar | rs80357580 |
rs80357580 | |
pharmgkb | rs80357580 |
gwascentral | rs80357580 |
openSNP | rs80357580 |
23andMe | rs80357580 |
SNPshot | rs80357580 |
SNPdbe | rs80357580 |
MSV3d | rs80357580 |
GWAS Ctlg | rs80357580 |
Merged from | Rs80357862, Rs80357924 |
Max Magnitude | 6 |
rs80357580, also known as 5146del4, c.5027_5030delTAAC and p.Leu1676_Thr1677?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | Rs80357580(CTAA;CTAA) rs80357580(AACT;AACT) rs80357580(-;-) |
Alt | Rs80357580(CTAA;CTAA) rs80357580(AACT;AACT) rs80357580(-;-) |
Reference | Rs80357580(TAAC;TAAC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast |
Reversed | 1 |
HGVS | NC_000017.10:g.41219666_41219669delTTAG |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000031204.11, RCV000048741.5, RCV000162882.1, RCV000236835.2, RCV000240792.1, |