rs80359871
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CGCGTTGAAGAAGTACAAAATGTCATTAA) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(CGCGTTGAAGAAGTACAAAATGTCATTAA;CGCGTTGAAGAAGTACAAAATGTCATTAA) | 0 | common in clinvar |
Make rs80359871(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 43124050 |
Gene | BRCA1, NBR2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359871 |
dbSNP (classic) | rs80359871 |
ClinGen | rs80359871 |
ebi | rs80359871 |
HLI | rs80359871 |
Exac | rs80359871 |
Gnomad | rs80359871 |
Varsome | rs80359871 |
LitVar | rs80359871 |
Map | rs80359871 |
PheGenI | rs80359871 |
Biobank | rs80359871 |
1000 genomes | rs80359871 |
hgdp | rs80359871 |
ensembl | rs80359871 |
geneview | rs80359871 |
scholar | rs80359871 |
rs80359871 | |
pharmgkb | rs80359871 |
gwascentral | rs80359871 |
openSNP | rs80359871 |
23andMe | rs80359871 |
SNPshot | rs80359871 |
SNPdbe | rs80359871 |
MSV3d | rs80359871 |
GWAS Ctlg | rs80359871 |
Max Magnitude | 6 |
rs80359871, also known as 138del29, c.19_47del and p.Arg7_Asn16?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80359871(-;-) |
Alt | rs80359871(-;-) |
Reference | Rs80359871(CGCGTTGAAGAAGTACAAAATGTCATTAA;CGCGTTGAAGAAGTACAAAATGTCATTAA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | NBR2 BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.41276067_41276095del29 |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000111579.3, RCV000163512.1, |