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rs80357882

From SNPedia

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


Make rs80357882(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43099865
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357882
ebirs80357882
HLIrs80357882
Exacrs80357882
Varsomers80357882
Maprs80357882
PheGenIrs80357882
hapmaprs80357882
1000 genomesrs80357882
hgdprs80357882
ensemblrs80357882
gopubmedrs80357882
geneviewrs80357882
scholarrs80357882
googlers80357882
pharmgkbrs80357882
gwascentralrs80357882
openSNPrs80357882
23andMers80357882
23andMe allrs80357882
SNP Nexus

SNPshotrs80357882
SNPdbers80357882
MSV3drs80357882
GWAS Ctlgrs80357882
Max Magnitude6
rs80357882, also known as 575delCA, c.456_457delCA and p.Leu152_Ser153LeuCysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357882(;)
Alt rs80357882(;)
Reference rs80357882(CA;CA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41251882_41251883delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112711.1, RCV000230542.1,