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rs80357816

From SNPedia

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


Make rs80357816(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43104145
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357816
ebirs80357816
HLIrs80357816
Exacrs80357816
Varsomers80357816
Maprs80357816
PheGenIrs80357816
hapmaprs80357816
1000 genomesrs80357816
hgdprs80357816
ensemblrs80357816
gopubmedrs80357816
geneviewrs80357816
scholarrs80357816
googlers80357816
pharmgkbrs80357816
gwascentralrs80357816
openSNPrs80357816
23andMers80357816
23andMe allrs80357816
SNP Nexus

SNPshotrs80357816
SNPdbers80357816
MSV3drs80357816
GWAS Ctlgrs80357816
Max Magnitude6
rs80357816, also known as 531del7, c.412_418delCTACAGA and p.Leu138_Ser140?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357816(;)
Alt rs80357816(;)
Reference rs80357816(CTACAGA;CTACAGA)
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.41256162_41256168delTCTGTAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048454.2, RCV000112562.1,