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rs80357755

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GAAGA) 6 BRCA1 variant considered pathogenic for breast cancer
(GAGAA;GAGAA) 0 common in clinvar
Make rs80357755(-;-)
Make rs80357755(GAAGA;GAAGA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093333
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357755
ebirs80357755
HLIrs80357755
Exacrs80357755
Varsomers80357755
Maprs80357755
PheGenIrs80357755
hapmaprs80357755
1000 genomesrs80357755
hgdprs80357755
ensemblrs80357755
gopubmedrs80357755
geneviewrs80357755
scholarrs80357755
googlers80357755
pharmgkbrs80357755
gwascentralrs80357755
openSNPrs80357755
23andMers80357755
23andMe allrs80357755
SNP Nexus

SNPshotrs80357755
SNPdbers80357755
MSV3drs80357755
GWAS Ctlgrs80357755
Max Magnitude6
rs80357755, also known as 2313del5, c.2194_2198delGAAGA and p.Glu732_Glu733?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357755(;)
Alt rs80357755(;)
Reference rs80357755(GAGAA;GAGAA)
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.41245347_41245351delTTCTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047754.3, RCV000111789.3,