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rs80357866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TGAGA) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357866(-;-)
Make rs80357866(TGAGA;TGAGA)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092483
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357866
ebirs80357866
HLIrs80357866
Exacrs80357866
Varsomers80357866
Maprs80357866
PheGenIrs80357866
hapmaprs80357866
1000 genomesrs80357866
hgdprs80357866
ensemblrs80357866
gopubmedrs80357866
geneviewrs80357866
scholarrs80357866
googlers80357866
pharmgkbrs80357866
gwascentralrs80357866
openSNPrs80357866
23andMers80357866
23andMe allrs80357866
SNP Nexus

SNPshotrs80357866
SNPdbers80357866
MSV3drs80357866
GWAS Ctlgrs80357866
Max Magnitude6
rs80357866, also known as 3166ins5, c.3047_3048insTGAGA and p.Asn1016?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357866(TGAGA;TGAGA)
Alt rs80357866(TGAGA;TGAGA)
Reference rs80357866(;)
Significance Pathogenic
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.41244496_41244500dupTCTCA
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019262.7, RCV000048059.3, RCV000131332.2, RCV000159913.2,