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rs80357565

From SNPedia

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


Make rs80357565(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090967
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357565
ebirs80357565
HLIrs80357565
Exacrs80357565
Varsomers80357565
Maprs80357565
PheGenIrs80357565
hapmaprs80357565
1000 genomesrs80357565
hgdprs80357565
ensemblrs80357565
gopubmedrs80357565
geneviewrs80357565
scholarrs80357565
googlers80357565
pharmgkbrs80357565
gwascentralrs80357565
openSNPrs80357565
23andMers80357565
23andMe allrs80357565
SNP Nexus

SNPshotrs80357565
SNPdbers80357565
MSV3drs80357565
GWAS Ctlgrs80357565
Max Magnitude6
rs80357565, also known as 4280delTC, c.4161_4162delTC and p.Ser1387_Gln1388SerGlufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357565(;)
Alt rs80357565(;)
Reference rs80357565(TC;TC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41242984_41242985delGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048461.2, RCV000112271.1, RCV000162873.1,