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rs80357530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AATG) 6 BRCA1 variant considered pathogenic for breast cancer
(AATG;AATG) 0 common in clinvar


Make rs80357530(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124057
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357530
ebirs80357530
HLIrs80357530
Exacrs80357530
Varsomers80357530
Maprs80357530
PheGenIrs80357530
hapmaprs80357530
1000 genomesrs80357530
hgdprs80357530
ensemblrs80357530
gopubmedrs80357530
geneviewrs80357530
scholarrs80357530
googlers80357530
pharmgkbrs80357530
gwascentralrs80357530
openSNPrs80357530
23andMers80357530
23andMe allrs80357530
SNP Nexus

SNPshotrs80357530
SNPdbers80357530
MSV3drs80357530
GWAS Ctlgrs80357530
Max Magnitude6
rs80357530, also known as 156del4, c.37_40delAATG and p.Asn13_Val14?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357530(;)
Alt rs80357530(;)
Reference rs80357530(AATG;AATG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41276074_41276077delCATT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048337.2, RCV000111621.1, RCV000162865.1,