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rs80357877

From SNPedia

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


Make rs80357877(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092040
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357877
ebirs80357877
HLIrs80357877
Exacrs80357877
Varsomers80357877
Maprs80357877
PheGenIrs80357877
hapmaprs80357877
1000 genomesrs80357877
hgdprs80357877
ensemblrs80357877
gopubmedrs80357877
geneviewrs80357877
scholarrs80357877
googlers80357877
pharmgkbrs80357877
gwascentralrs80357877
openSNPrs80357877
23andMers80357877
23andMe allrs80357877
SNP Nexus

SNPshotrs80357877
SNPdbers80357877
MSV3drs80357877
GWAS Ctlgrs80357877
Max Magnitude6
rs80357877, also known as 3600del11, c.3481_3491delGAAGATACTAG and p.Glu1161_Ser1164?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357877(;)
Alt rs80357877(;)
Reference rs80357877(GAAGATACTAG;GAAGATACTAG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 1
HGVS NC_000017.10:g.41244057_41244067delCTAGTATCTTC
CLNSRC Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC RCV000019254.13, RCV000048211.5, RCV000131815.3, RCV000159917.1,