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rs80357622

From SNPedia

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


Make rs80357622(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094620
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357622
ebirs80357622
HLIrs80357622
Exacrs80357622
Varsomers80357622
Maprs80357622
PheGenIrs80357622
hapmaprs80357622
1000 genomesrs80357622
hgdprs80357622
ensemblrs80357622
gopubmedrs80357622
geneviewrs80357622
scholarrs80357622
googlers80357622
pharmgkbrs80357622
gwascentralrs80357622
openSNPrs80357622
23andMers80357622
23andMe allrs80357622
SNP Nexus

SNPshotrs80357622
SNPdbers80357622
MSV3drs80357622
GWAS Ctlgrs80357622
Max Magnitude6
rs80357622, also known as 1030delT, c.911_911delT and p.Phe304Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357622(;)
Alt rs80357622(;)
Reference rs80357622(T;T)
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.41246637delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049186.2, RCV000111509.1,