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rs80357731

From SNPedia

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


Make rs80357731(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092809
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357731
ebirs80357731
HLIrs80357731
Exacrs80357731
Varsomers80357731
Maprs80357731
PheGenIrs80357731
hapmaprs80357731
1000 genomesrs80357731
hgdprs80357731
ensemblrs80357731
gopubmedrs80357731
geneviewrs80357731
scholarrs80357731
googlers80357731
pharmgkbrs80357731
gwascentralrs80357731
openSNPrs80357731
23andMers80357731
23andMe allrs80357731
SNP Nexus

SNPshotrs80357731
SNPdbers80357731
MSV3drs80357731
GWAS Ctlgrs80357731
Max Magnitude6
rs80357731, also known as 2838del4, c.2719_2722delGAAG and p.Glu907_Glu908?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357731(;)
Alt rs80357731(;)
Reference rs80357731(GAAG;GAAG)
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.41244826_41244829delCTTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047942.2, RCV000077526.3, RCV000235604.1,