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rs80357814

From SNPedia

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


Make rs80357814(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093420
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357814
ebirs80357814
HLIrs80357814
Exacrs80357814
Varsomers80357814
Maprs80357814
PheGenIrs80357814
hapmaprs80357814
1000 genomesrs80357814
hgdprs80357814
ensemblrs80357814
gopubmedrs80357814
geneviewrs80357814
scholarrs80357814
googlers80357814
pharmgkbrs80357814
gwascentralrs80357814
openSNPrs80357814
23andMers80357814
23andMe allrs80357814
SNP Nexus

SNPshotrs80357814
SNPdbers80357814
MSV3drs80357814
GWAS Ctlgrs80357814
Max Magnitude6
rs80357814, also known as 2229delAA, c.2110_2111delAA and p.Asn704Cysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357814(;)
Alt rs80357814(;)
Reference rs80357814(AA;AA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41245437_41245438delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047712.3, RCV000111773.1, RCV000162850.1,