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rs80357532

From SNPedia

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


Make rs80357532(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090963
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357532
ebirs80357532
HLIrs80357532
Exacrs80357532
Varsomers80357532
Maprs80357532
PheGenIrs80357532
hapmaprs80357532
1000 genomesrs80357532
hgdprs80357532
ensemblrs80357532
gopubmedrs80357532
geneviewrs80357532
scholarrs80357532
googlers80357532
pharmgkbrs80357532
gwascentralrs80357532
openSNPrs80357532
23andMers80357532
23andMe allrs80357532
SNP Nexus

SNPshotrs80357532
SNPdbers80357532
MSV3drs80357532
GWAS Ctlgrs80357532
Max Magnitude6
rs80357532, also known as 4282del4, c.4163_4166delAGAG and p.Gln1388_Ser1389?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357532(;)
Alt rs80357532(;)
Reference rs80357532(AGAG;AGAG)
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.41242980_41242983delCTCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048462.2, RCV000112273.1,