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rs80357518

From SNPedia

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


Make rs80357518(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092853
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357518
ebirs80357518
HLIrs80357518
Exacrs80357518
Varsomers80357518
Maprs80357518
PheGenIrs80357518
hapmaprs80357518
1000 genomesrs80357518
hgdprs80357518
ensemblrs80357518
gopubmedrs80357518
geneviewrs80357518
scholarrs80357518
googlers80357518
pharmgkbrs80357518
gwascentralrs80357518
openSNPrs80357518
23andMers80357518
23andMe allrs80357518
SNP Nexus

SNPshotrs80357518
SNPdbers80357518
MSV3drs80357518
GWAS Ctlgrs80357518
Max Magnitude6
rs80357518, also known as 2794del4, c.2675_2678delTAAA and p.Leu892_Lys893?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357518(;)
Alt rs80357518(;)
Reference rs80357518(TAAA;TAAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244870_41244873delTTTA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047922.2, RCV000111913.1,