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rs80357961

From SNPedia

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


Make rs80357961(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092661
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357961
ebirs80357961
HLIrs80357961
Exacrs80357961
Varsomers80357961
Maprs80357961
PheGenIrs80357961
hapmaprs80357961
1000 genomesrs80357961
hgdprs80357961
ensemblrs80357961
gopubmedrs80357961
geneviewrs80357961
scholarrs80357961
googlers80357961
pharmgkbrs80357961
gwascentralrs80357961
openSNPrs80357961
23andMers80357961
23andMe allrs80357961
SNP Nexus

SNPshotrs80357961
SNPdbers80357961
MSV3drs80357961
GWAS Ctlgrs80357961
Max Magnitude6
rs80357961, also known as 2985del5, c.2866_2870delTCTCA and p.Ser956_Gln957?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357961(;)
Alt rs80357961(;)
Reference rs80357961(TCTCA;TCTCA)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244678_41244682delTGAGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047993.5, RCV000111951.3, RCV000195360.1, RCV000239021.1,