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rs80359876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;CTGGCCTGACCCCAGAAGA) 6 BRCA1 variant considered pathogenic for breast cancer
(CTGGCCTGACCCCAGAAGA;CTGGCCTGACCCCAGAAGA) 0 Normal


Make rs80359876(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43070932
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80359876
ebirs80359876
HLIrs80359876
Exacrs80359876
Varsomers80359876
Maprs80359876
PheGenIrs80359876
hapmaprs80359876
1000 genomesrs80359876
hgdprs80359876
ensemblrs80359876
gopubmedrs80359876
geneviewrs80359876
scholarrs80359876
googlers80359876
pharmgkbrs80359876
gwascentralrs80359876
openSNPrs80359876
23andMers80359876
23andMe allrs80359876
SNP Nexus

SNPshotrs80359876
SNPdbers80359876
MSV3drs80359876
GWAS Ctlgrs80359876
Max Magnitude6
rs80359876, also known as 5083del19, c.4964_4982del and p.Ser1655_Glu1661?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359876(;)
Alt rs80359876(;)
Reference rs80359876(CTGGCCTGACCCCAGAAGA;CTGGCCTGACCCCAGAAGA)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41222949_41222967del19
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031197.7, RCV000123279.2, RCV000130587.2, RCV000159927.2,