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rs80357534

From SNPedia

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


Make rs80357534(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074472
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357534
ClinGenrs80357534
ebirs80357534
HLIrs80357534
Exacrs80357534
Varsomers80357534
Maprs80357534
PheGenIrs80357534
hapmaprs80357534
1000 genomesrs80357534
hgdprs80357534
ensemblrs80357534
gopubmedrs80357534
geneviewrs80357534
scholarrs80357534
googlers80357534
pharmgkbrs80357534
gwascentralrs80357534
openSNPrs80357534
23andMers80357534
23andMe allrs80357534
SNP Nexus

SNPshotrs80357534
SNPdbers80357534
MSV3drs80357534
GWAS Ctlgrs80357534
Max Magnitude6
rs80357534, also known as 4652delCA, c.4533_4534delCA and p.His1511_Ser1512GlnLeufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357534(-;-)
Alt rs80357534(-;-)
Reference Rs80357534(CA;CA)
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.41226489_41226490delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048588.2, RCV000112354.3,