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rs80357822

From SNPedia

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


Make rs80357822(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092764
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357822
ebirs80357822
HLIrs80357822
Exacrs80357822
Varsomers80357822
Maprs80357822
PheGenIrs80357822
hapmaprs80357822
1000 genomesrs80357822
hgdprs80357822
ensemblrs80357822
gopubmedrs80357822
geneviewrs80357822
scholarrs80357822
googlers80357822
pharmgkbrs80357822
gwascentralrs80357822
openSNPrs80357822
23andMers80357822
23andMe allrs80357822
SNP Nexus

SNPshotrs80357822
SNPdbers80357822
MSV3drs80357822
GWAS Ctlgrs80357822
Max Magnitude6
rs80357822, also known as 2883del4, c.2764_2767delACAG and p.Thr922_Val923?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357822(;)
Alt rs80357822(;)
Reference rs80357822(ACAG;ACAG)
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.41244781_41244784delCTGT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047963.2, RCV000111935.1,