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rs80357632

From SNPedia

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


Make rs80357632(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094031
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357632
ebirs80357632
HLIrs80357632
Exacrs80357632
Varsomers80357632
Maprs80357632
PheGenIrs80357632
hapmaprs80357632
1000 genomesrs80357632
hgdprs80357632
ensemblrs80357632
gopubmedrs80357632
geneviewrs80357632
scholarrs80357632
googlers80357632
pharmgkbrs80357632
gwascentralrs80357632
openSNPrs80357632
23andMers80357632
23andMe allrs80357632
SNP Nexus

SNPshotrs80357632
SNPdbers80357632
MSV3drs80357632
GWAS Ctlgrs80357632
Max Magnitude6
rs80357632, also known as 1616del4, c.1497_1500delAAAT and p.Thr499_Asn500?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357632(;)
Alt rs80357632(;)
Reference rs80357632(AAAT;AAAT)
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.41246048_41246051delATTT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047496.2, RCV000111632.1,