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rs80357735

From SNPedia

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


Make rs80357735(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094001
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357735
ebirs80357735
HLIrs80357735
Exacrs80357735
Varsomers80357735
Maprs80357735
PheGenIrs80357735
hapmaprs80357735
1000 genomesrs80357735
hgdprs80357735
ensemblrs80357735
gopubmedrs80357735
geneviewrs80357735
scholarrs80357735
googlers80357735
pharmgkbrs80357735
gwascentralrs80357735
openSNPrs80357735
23andMers80357735
23andMe allrs80357735
SNP Nexus

SNPshotrs80357735
SNPdbers80357735
MSV3drs80357735
GWAS Ctlgrs80357735
Max Magnitude6
rs80357735, also known as 1649delA, c.1530_1530delA and p.Ser510=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357735(;)
Alt rs80357735(;)
Reference rs80357735(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41246018delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047516.2, RCV000111644.1, RCV000221019.1,