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rs80357864

From SNPedia

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


Make rs80357864(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091597
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357864
ebirs80357864
HLIrs80357864
Exacrs80357864
Varsomers80357864
Maprs80357864
PheGenIrs80357864
hapmaprs80357864
1000 genomesrs80357864
hgdprs80357864
ensemblrs80357864
gopubmedrs80357864
geneviewrs80357864
scholarrs80357864
googlers80357864
pharmgkbrs80357864
gwascentralrs80357864
openSNPrs80357864
23andMers80357864
23andMe allrs80357864
SNP Nexus

SNPshotrs80357864
SNPdbers80357864
MSV3drs80357864
GWAS Ctlgrs80357864
Max Magnitude6
rs80357864, also known as 4050del4, c.3931_3934delAACA and p.Asn1311_Thr1312?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357864(;)
Alt rs80357864(;)
Reference rs80357864(AACA;AACA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243614_41243617delTGTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048384.2, RCV000112211.1,