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rs80357654

From SNPedia

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


Make rs80357654(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093320
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357654
ebirs80357654
HLIrs80357654
Exacrs80357654
Varsomers80357654
Maprs80357654
PheGenIrs80357654
hapmaprs80357654
1000 genomesrs80357654
hgdprs80357654
ensemblrs80357654
gopubmedrs80357654
geneviewrs80357654
scholarrs80357654
googlers80357654
pharmgkbrs80357654
gwascentralrs80357654
openSNPrs80357654
23andMers80357654
23andMe allrs80357654
SNP Nexus

SNPshotrs80357654
SNPdbers80357654
MSV3drs80357654
GWAS Ctlgrs80357654
Max Magnitude6
rs80357654, also known as 2329delCA, c.2210_2211delCA and p.Thr737Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357654(;)
Alt rs80357654(;)
Reference rs80357654(CA;CA)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245337_41245338delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031037.4, RCV000047759.2, RCV000131875.2, RCV000236097.1,