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rs80359884

From SNPedia

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


Make rs80359884(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43070930
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359884
ebirs80359884
HLIrs80359884
Exacrs80359884
Varsomers80359884
Maprs80359884
PheGenIrs80359884
hapmaprs80359884
1000 genomesrs80359884
hgdprs80359884
ensemblrs80359884
gopubmedrs80359884
geneviewrs80359884
scholarrs80359884
googlers80359884
pharmgkbrs80359884
gwascentralrs80359884
openSNPrs80359884
23andMers80359884
23andMe allrs80359884
SNP Nexus

SNPshotrs80359884
SNPdbers80359884
MSV3drs80359884
GWAS Ctlgrs80359884
Max Magnitude6
rs80359884, also known as 5085del19, c.4966_4984del and p.Gly1656_Phe1662?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359884(;)
Alt rs80359884(;)
Reference rs80359884(GGCCTGACCCCAGAAGAAT;GGCCTGACCCCAGAAGAAT)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41222947_41222965del19
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019249.4,