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rs80357955

From SNPedia

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


Make rs80357955(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094736
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357955
ebirs80357955
HLIrs80357955
Exacrs80357955
Varsomers80357955
Maprs80357955
PheGenIrs80357955
hapmaprs80357955
1000 genomesrs80357955
hgdprs80357955
ensemblrs80357955
gopubmedrs80357955
geneviewrs80357955
scholarrs80357955
googlers80357955
pharmgkbrs80357955
gwascentralrs80357955
openSNPrs80357955
23andMers80357955
23andMe allrs80357955
SNP Nexus

SNPshotrs80357955
SNPdbers80357955
MSV3drs80357955
GWAS Ctlgrs80357955
Max Magnitude6
rs80357955, also known as 913delCT, c.794_795delCT and p.Ser265Cysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357955(;)
Alt rs80357955(;)
Reference rs80357955(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.41246753_41246754delAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049139.2, RCV000112788.1,