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rs80357657

From SNPedia

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


Make rs80357657(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093247
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357657
ebirs80357657
HLIrs80357657
Exacrs80357657
Varsomers80357657
Maprs80357657
PheGenIrs80357657
hapmaprs80357657
1000 genomesrs80357657
hgdprs80357657
ensemblrs80357657
gopubmedrs80357657
geneviewrs80357657
scholarrs80357657
googlers80357657
pharmgkbrs80357657
gwascentralrs80357657
openSNPrs80357657
23andMers80357657
23andMe allrs80357657
SNP Nexus

SNPshotrs80357657
SNPdbers80357657
MSV3drs80357657
GWAS Ctlgrs80357657
Max Magnitude6
rs80357657, also known as 2402delAA, c.2283_2284delAA and p.Glu761_Arg762GluIlefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357657(;)
Alt rs80357657(;)
Reference rs80357657(AA;AA)
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.41245264_41245265delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047782.2, RCV000111816.1,