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rs80357842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AGTG) 6 BRCA1 variant considered pathogenic for breast cancer
(TGAG;TGAG) 0 common in clinvar
Make rs80357842(-;-)
Make rs80357842(AGTG;AGTG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091672
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357842
ebirs80357842
HLIrs80357842
Exacrs80357842
Varsomers80357842
Maprs80357842
PheGenIrs80357842
hapmaprs80357842
1000 genomesrs80357842
hgdprs80357842
ensemblrs80357842
gopubmedrs80357842
geneviewrs80357842
scholarrs80357842
googlers80357842
pharmgkbrs80357842
gwascentralrs80357842
openSNPrs80357842
23andMers80357842
23andMe allrs80357842
SNP Nexus

SNPshotrs80357842
SNPdbers80357842
MSV3drs80357842
GWAS Ctlgrs80357842
Max Magnitude6
rs80357842, also known as 3975del4, c.3856_3859delAGTG and p.Ser1286_Glu1287?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357842(;)
Alt rs80357842(;)
Reference rs80357842(TGAG;TGAG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41243687_41243690delCTCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031134.5, RCV000048359.5,