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rs80357714

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357714(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094150
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357714
ebirs80357714
HLIrs80357714
Exacrs80357714
Varsomers80357714
Maprs80357714
PheGenIrs80357714
hapmaprs80357714
1000 genomesrs80357714
hgdprs80357714
ensemblrs80357714
gopubmedrs80357714
geneviewrs80357714
scholarrs80357714
googlers80357714
pharmgkbrs80357714
gwascentralrs80357714
openSNPrs80357714
23andMers80357714
23andMe allrs80357714
SNP Nexus

SNPshotrs80357714
SNPdbers80357714
MSV3drs80357714
GWAS Ctlgrs80357714
Max Magnitude6
rs80357714, also known as 1499insA, c.1380_1381insA and p.Ile460_Phe461?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357714(A;A)
Alt rs80357714(A;A)
Reference rs80357714(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41246168dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030988.5, RCV000047447.2, RCV000214909.1,