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rs80357989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TCATTAC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357989(-;-)
Make rs80357989(TCATTAC;TCATTAC)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094680
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357989
ebirs80357989
HLIrs80357989
Exacrs80357989
Varsomers80357989
Maprs80357989
PheGenIrs80357989
hapmaprs80357989
1000 genomesrs80357989
hgdprs80357989
ensemblrs80357989
gopubmedrs80357989
geneviewrs80357989
scholarrs80357989
googlers80357989
pharmgkbrs80357989
gwascentralrs80357989
openSNPrs80357989
23andMers80357989
23andMe allrs80357989
SNP Nexus

SNPshotrs80357989
SNPdbers80357989
MSV3drs80357989
GWAS Ctlgrs80357989
Max Magnitude6
rs80357989, also known as 969ins7, c.850_851insTCATTAC and p.Gln284?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357989(TCATTAC;TCATTAC)
Alt rs80357989(TCATTAC;TCATTAC)
Reference rs80357989(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41246698_41246704dupGTAATGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049169.2, RCV000112803.1, RCV000165711.1,