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rs80357771

From SNPedia

Merged intors80357507
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAGAG) 6 BRCA1 variant considered pathogenic for breast cancer
(AAGAG;AAGAG) 0 common/normal
(GAGAA;GAGAA) 0 common in clinvar


Make rs80357771(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093332
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357771
dbSNP (old)rs80357771
ClinGenrs80357771
ebirs80357771
HLIrs80357771
Exacrs80357771
Gnomadrs80357771
Varsomers80357771
Maprs80357771
PheGenIrs80357771
Biobankrs80357771
1000 genomesrs80357771
hgdprs80357771
ensemblrs80357771
gopubmedrs80357771
geneviewrs80357771
scholarrs80357771
googlers80357771
pharmgkbrs80357771
gwascentralrs80357771
openSNPrs80357771
23andMers80357771
23andMe allrs80357771
SNP Nexus

SNPshotrs80357771
SNPdbers80357771
MSV3drs80357771
GWAS Ctlgrs80357771
StatusMerged into rs80357507
Max Magnitude6
rs80357771, also known as 2314del5, c.2195_2199delAAGAG and p.Glu732_Glu733?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk
Alt
Reference Rs80357771(GAGAA;GAGAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed 1
HGVS NC_000017.10:g.41245347_41245351delTTCTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047754.3, RCV000111789.5, RCV000254636.1,