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rs80357715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357715(-;-)
Make rs80357715(A;A)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093375
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357715
ebirs80357715
HLIrs80357715
Exacrs80357715
Varsomers80357715
Maprs80357715
PheGenIrs80357715
hapmaprs80357715
1000 genomesrs80357715
hgdprs80357715
ensemblrs80357715
gopubmedrs80357715
geneviewrs80357715
scholarrs80357715
googlers80357715
pharmgkbrs80357715
gwascentralrs80357715
openSNPrs80357715
23andMers80357715
23andMe allrs80357715
SNP Nexus

SNPshotrs80357715
SNPdbers80357715
MSV3drs80357715
GWAS Ctlgrs80357715
Max Magnitude6
rs80357715, also known as 2274insA, c.2155_2156insA and p.Lys719?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357715(A;A)
Alt rs80357715(A;A)
Reference rs80357715(;)
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.41245391dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047735.3, RCV000111778.1, RCV000210761.1,