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rs80357880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357880(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093425
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357880
ebirs80357880
HLIrs80357880
Exacrs80357880
Varsomers80357880
Maprs80357880
PheGenIrs80357880
hapmaprs80357880
1000 genomesrs80357880
hgdprs80357880
ensemblrs80357880
gopubmedrs80357880
geneviewrs80357880
scholarrs80357880
googlers80357880
pharmgkbrs80357880
gwascentralrs80357880
openSNPrs80357880
23andMers80357880
23andMe allrs80357880
SNP Nexus

SNPshotrs80357880
SNPdbers80357880
MSV3drs80357880
GWAS Ctlgrs80357880
Max Magnitude6
rs80357880, also known as 2224insT, c.2105_2106insT and p.Leu702?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357880(T;T)
Alt rs80357880(T;T)
Reference rs80357880(;)
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.41245443dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031026.4, RCV000233676.1,