Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 Normal


Make rs80357583(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093262
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357583
ebirs80357583
HLIrs80357583
Exacrs80357583
Varsomers80357583
Maprs80357583
PheGenIrs80357583
hapmaprs80357583
1000 genomesrs80357583
hgdprs80357583
ensemblrs80357583
gopubmedrs80357583
geneviewrs80357583
scholarrs80357583
googlers80357583
pharmgkbrs80357583
gwascentralrs80357583
openSNPrs80357583
23andMers80357583
23andMe allrs80357583
SNP Nexus

SNPshotrs80357583
SNPdbers80357583
MSV3drs80357583
GWAS Ctlgrs80357583
Max Magnitude6
rs80357583, also known as 2388delG, c.2269_2269delG and p.Val757Phefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357583(;)
Alt rs80357583(;)
Reference rs80357583(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245279delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031040.5, RCV000047779.2, RCV000215693.1,