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rs80357801

From SNPedia

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


Make rs80357801(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094084
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357801
ebirs80357801
HLIrs80357801
Exacrs80357801
Varsomers80357801
Maprs80357801
PheGenIrs80357801
hapmaprs80357801
1000 genomesrs80357801
hgdprs80357801
ensemblrs80357801
gopubmedrs80357801
geneviewrs80357801
scholarrs80357801
googlers80357801
pharmgkbrs80357801
gwascentralrs80357801
openSNPrs80357801
23andMers80357801
23andMe allrs80357801
SNP Nexus

SNPshotrs80357801
SNPdbers80357801
MSV3drs80357801
GWAS Ctlgrs80357801
Max Magnitude6
rs80357801, also known as 1563del4, c.1444_1447delATTA and p.Ile482_Ile483?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357801(;)
Alt rs80357801(;)
Reference rs80357801(ATTA;ATTA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41246101_41246104delTAAT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030994.4, RCV000047476.3,