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rs80357610

From SNPedia

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


Make rs80357610(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094550
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357610
ebirs80357610
HLIrs80357610
Exacrs80357610
Varsomers80357610
Maprs80357610
PheGenIrs80357610
hapmaprs80357610
1000 genomesrs80357610
hgdprs80357610
ensemblrs80357610
gopubmedrs80357610
geneviewrs80357610
scholarrs80357610
googlers80357610
pharmgkbrs80357610
gwascentralrs80357610
openSNPrs80357610
23andMers80357610
23andMe allrs80357610
SNP Nexus

SNPshotrs80357610
SNPdbers80357610
MSV3drs80357610
GWAS Ctlgrs80357610
Max Magnitude6
rs80357610, also known as 1099delCA, c.980_981delCA and p.Thr327Metfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357610(;)
Alt rs80357610(;)
Reference rs80357610(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.41246567_41246568delTG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049209.2, RCV000111519.1,