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rs80357666

From SNPedia

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


Make rs80357666(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091824
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357666
ClinGenrs80357666
ebirs80357666
HLIrs80357666
Exacrs80357666
Varsomers80357666
Maprs80357666
PheGenIrs80357666
hapmaprs80357666
1000 genomesrs80357666
hgdprs80357666
ensemblrs80357666
gopubmedrs80357666
geneviewrs80357666
scholarrs80357666
googlers80357666
pharmgkbrs80357666
gwascentralrs80357666
openSNPrs80357666
23andMers80357666
23andMe allrs80357666
SNP Nexus

SNPshotrs80357666
SNPdbers80357666
MSV3drs80357666
GWAS Ctlgrs80357666
Max Magnitude6
rs80357666, also known as 3825delAA, c.3706_3707delAA and p.Asn1236Tyrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357666(-;-)
Alt rs80357666(-;-)
Reference Rs80357666(AA;AA)
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.41243841_41243842delTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048290.2, RCV000112157.3,