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

rs80357584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CA) 6 BRCA1 variant considered pathogenic for breast cancer
(CA;CA) 0 common in clinvar


Make rs80357584(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091689
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357584
ebirs80357584
HLIrs80357584
Exacrs80357584
Varsomers80357584
Maprs80357584
PheGenIrs80357584
hapmaprs80357584
1000 genomesrs80357584
hgdprs80357584
ensemblrs80357584
gopubmedrs80357584
geneviewrs80357584
scholarrs80357584
googlers80357584
pharmgkbrs80357584
gwascentralrs80357584
openSNPrs80357584
23andMers80357584
23andMe allrs80357584
SNP Nexus

SNPshotrs80357584
SNPdbers80357584
MSV3drs80357584
GWAS Ctlgrs80357584
Max Magnitude6
rs80357584, also known as 3960delCA, c.3841_3842delCA and p.Gln1281Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357584(;)
Alt rs80357584(;)
Reference rs80357584(CA;CA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243706_41243707delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048351.2, RCV000112196.1,