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rs80357845

From SNPedia

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


Make rs80357845(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091961
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357845
ebirs80357845
HLIrs80357845
Exacrs80357845
Varsomers80357845
Maprs80357845
PheGenIrs80357845
hapmaprs80357845
1000 genomesrs80357845
hgdprs80357845
ensemblrs80357845
gopubmedrs80357845
geneviewrs80357845
scholarrs80357845
googlers80357845
pharmgkbrs80357845
gwascentralrs80357845
openSNPrs80357845
23andMers80357845
23andMe allrs80357845
SNP Nexus

SNPshotrs80357845
SNPdbers80357845
MSV3drs80357845
GWAS Ctlgrs80357845
Max Magnitude6
rs80357845, also known as 3688delCT, c.3569_3570delCT and p.Pro1190Glnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357845(;)
Alt rs80357845(;)
Reference rs80357845(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243978_41243979delAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048234.2, RCV000112119.1,