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rs80357806

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;AATG) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357806(-;-)
Make rs80357806(AATG;AATG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094635
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357806
ebirs80357806
HLIrs80357806
Exacrs80357806
Varsomers80357806
Maprs80357806
PheGenIrs80357806
hapmaprs80357806
1000 genomesrs80357806
hgdprs80357806
ensemblrs80357806
gopubmedrs80357806
geneviewrs80357806
scholarrs80357806
googlers80357806
pharmgkbrs80357806
gwascentralrs80357806
openSNPrs80357806
23andMers80357806
23andMe allrs80357806
SNP Nexus

SNPshotrs80357806
SNPdbers80357806
MSV3drs80357806
GWAS Ctlgrs80357806
Max Magnitude6
rs80357806, also known as 1014ins4, c.895_896insAATG and p.Val299?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357806(AATG;AATG)
Alt rs80357806(AATG;AATG)
Reference rs80357806(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246653_41246656dupCATT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000168488.2,