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rs80357903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CAAG) 6 BRCA1 variant considered pathogenic for breast cancer
(CAAG;CAAG) 0 Normal


Make rs80357903(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092197
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357903
ebirs80357903
HLIrs80357903
Exacrs80357903
Varsomers80357903
Maprs80357903
PheGenIrs80357903
hapmaprs80357903
1000 genomesrs80357903
hgdprs80357903
ensemblrs80357903
gopubmedrs80357903
geneviewrs80357903
scholarrs80357903
googlers80357903
pharmgkbrs80357903
gwascentralrs80357903
openSNPrs80357903
23andMers80357903
23andMe allrs80357903
SNP Nexus

SNPshotrs80357903
SNPdbers80357903
MSV3drs80357903
GWAS Ctlgrs80357903
Max Magnitude6
rs80357903, also known as 3450del4, c.3331_3334delCAAG and p.Gln1111_Glu1112?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357903(;)
Alt rs80357903(;)
Reference rs80357903(CAAG;CAAG)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41244214_41244217delCTTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031104.9, RCV000048151.5, RCV000131812.2, RCV000195363.2,