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rs80357699

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;CT) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357699(-;-)
Make rs80357699(CT;CT)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074410
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357699
ebirs80357699
HLIrs80357699
Exacrs80357699
Varsomers80357699
Maprs80357699
PheGenIrs80357699
hapmaprs80357699
1000 genomesrs80357699
hgdprs80357699
ensemblrs80357699
gopubmedrs80357699
geneviewrs80357699
scholarrs80357699
googlers80357699
pharmgkbrs80357699
gwascentralrs80357699
openSNPrs80357699
23andMers80357699
23andMe allrs80357699
SNP Nexus

SNPshotrs80357699
SNPdbers80357699
MSV3drs80357699
GWAS Ctlgrs80357699
Max Magnitude6
rs80357699, also known as 4714insCT, c.4595_4596insCT and p.Val1532?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357699(CT;CT)
Alt rs80357699(CT;CT)
Reference rs80357699(;)
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.41226427_41226428insAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048601.2, RCV000112361.1,