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rs80357663

From SNPedia

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


Make rs80357663(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091951
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357663
ebirs80357663
HLIrs80357663
Exacrs80357663
Varsomers80357663
Maprs80357663
PheGenIrs80357663
hapmaprs80357663
1000 genomesrs80357663
hgdprs80357663
ensemblrs80357663
gopubmedrs80357663
geneviewrs80357663
scholarrs80357663
googlers80357663
pharmgkbrs80357663
gwascentralrs80357663
openSNPrs80357663
23andMers80357663
23andMe allrs80357663
SNP Nexus

SNPshotrs80357663
SNPdbers80357663
MSV3drs80357663
GWAS Ctlgrs80357663
Max Magnitude6
rs80357663, also known as 3699delA, c.3580_3580delA and p.Thr1194Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357663(;)
Alt rs80357663(;)
Reference rs80357663(A;A)
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.41243968delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048237.2, RCV000112121.1,