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rs80357853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357853(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093569
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357853
ebirs80357853
HLIrs80357853
Exacrs80357853
Varsomers80357853
Maprs80357853
PheGenIrs80357853
hapmaprs80357853
1000 genomesrs80357853
hgdprs80357853
ensemblrs80357853
gopubmedrs80357853
geneviewrs80357853
scholarrs80357853
googlers80357853
pharmgkbrs80357853
gwascentralrs80357853
openSNPrs80357853
23andMers80357853
23andMe allrs80357853
SNP Nexus

SNPshotrs80357853
SNPdbers80357853
MSV3drs80357853
GWAS Ctlgrs80357853
Max Magnitude6
rs80357853, also known as 2080insA, c.1961_1962insA and p.Lys654?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357853(A;A)
Alt rs80357853(A;A)
Reference rs80357853(;)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245587dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031018.5, RCV000047661.5, RCV000130225.2, RCV000203641.1,