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rs80357569

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357569(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094514
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357569
ebirs80357569
HLIrs80357569
Exacrs80357569
Varsomers80357569
Maprs80357569
PheGenIrs80357569
hapmaprs80357569
1000 genomesrs80357569
hgdprs80357569
ensemblrs80357569
gopubmedrs80357569
geneviewrs80357569
scholarrs80357569
googlers80357569
pharmgkbrs80357569
gwascentralrs80357569
openSNPrs80357569
23andMers80357569
23andMe allrs80357569
SNP Nexus

SNPshotrs80357569
SNPdbers80357569
MSV3drs80357569
GWAS Ctlgrs80357569
Max Magnitude6
rs80357569, also known as 1135insA, c.1016_1017insA and p.Lys339?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357569(A;A)
Alt rs80357569(A;A)
Reference rs80357569(;)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41246532dupT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000047310.5, RCV000074359.10, RCV000129421.2, RCV000190459.1,