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rs80357800

From SNPedia

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


Make rs80357800(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093053
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357800
ebirs80357800
HLIrs80357800
Exacrs80357800
Varsomers80357800
Maprs80357800
PheGenIrs80357800
hapmaprs80357800
1000 genomesrs80357800
hgdprs80357800
ensemblrs80357800
gopubmedrs80357800
geneviewrs80357800
scholarrs80357800
googlers80357800
pharmgkbrs80357800
gwascentralrs80357800
openSNPrs80357800
23andMers80357800
23andMe allrs80357800
SNP Nexus

SNPshotrs80357800
SNPdbers80357800
MSV3drs80357800
GWAS Ctlgrs80357800
Max Magnitude6
rs80357800, also known as 2596delCA, c.2477_2478delCA and p.Thr826Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357800(;)
Alt rs80357800(;)
Reference rs80357800(CA;CA)
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.41245070_41245071delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047853.2, RCV000111874.1,