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rs80357697

From SNPedia

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


Make rs80357697(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104942
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357697
ebirs80357697
HLIrs80357697
Exacrs80357697
Varsomers80357697
Maprs80357697
PheGenIrs80357697
hapmaprs80357697
1000 genomesrs80357697
hgdprs80357697
ensemblrs80357697
gopubmedrs80357697
geneviewrs80357697
scholarrs80357697
googlers80357697
pharmgkbrs80357697
gwascentralrs80357697
openSNPrs80357697
23andMers80357697
23andMe allrs80357697
SNP Nexus

SNPshotrs80357697
SNPdbers80357697
MSV3drs80357697
GWAS Ctlgrs80357697
Max Magnitude6
rs80357697, also known as 343del4, c.224_227delAAAG and p.Glu75_Ser76?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357697(;)
Alt rs80357697(;)
Reference rs80357697(AAAG;AAAG)
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.41256959_41256962delCTTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047774.2, RCV000112060.1,