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rs80357567

From SNPedia

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


Make rs80357567(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093647
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357567
ebirs80357567
HLIrs80357567
Exacrs80357567
Varsomers80357567
Maprs80357567
PheGenIrs80357567
hapmaprs80357567
1000 genomesrs80357567
hgdprs80357567
ensemblrs80357567
gopubmedrs80357567
geneviewrs80357567
scholarrs80357567
googlers80357567
pharmgkbrs80357567
gwascentralrs80357567
openSNPrs80357567
23andMers80357567
23andMe allrs80357567
SNP Nexus

SNPshotrs80357567
SNPdbers80357567
MSV3drs80357567
GWAS Ctlgrs80357567
Max Magnitude6
rs80357567, also known as 2000del4, c.1881_1884delCAGT and p.Val627_Ser628?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357567(;)
Alt rs80357567(;)
Reference rs80357567(CAGT;CAGT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245664_41245667delACTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047618.3, RCV000077498.3,