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rs80357655

From SNPedia

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


Make rs80357655(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43070969
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357655
ebirs80357655
HLIrs80357655
Exacrs80357655
Varsomers80357655
Maprs80357655
PheGenIrs80357655
hapmaprs80357655
1000 genomesrs80357655
hgdprs80357655
ensemblrs80357655
gopubmedrs80357655
geneviewrs80357655
scholarrs80357655
googlers80357655
pharmgkbrs80357655
gwascentralrs80357655
openSNPrs80357655
23andMers80357655
23andMe allrs80357655
SNP Nexus

SNPshotrs80357655
SNPdbers80357655
MSV3drs80357655
GWAS Ctlgrs80357655
Max Magnitude6
rs80357655, also known as 5063delAA, c.4944_4945delAA and p.Lys1648_Arg1649LysAsnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357655(;)
Alt rs80357655(;)
Reference rs80357655(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41222986_41222987delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112432.1,