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rs80357795

From SNPedia

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


Make rs80357795(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43071149
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357795
ebirs80357795
HLIrs80357795
Exacrs80357795
Varsomers80357795
Maprs80357795
PheGenIrs80357795
hapmaprs80357795
1000 genomesrs80357795
hgdprs80357795
ensemblrs80357795
gopubmedrs80357795
geneviewrs80357795
scholarrs80357795
googlers80357795
pharmgkbrs80357795
gwascentralrs80357795
openSNPrs80357795
23andMers80357795
23andMe allrs80357795
SNP Nexus

SNPshotrs80357795
SNPdbers80357795
MSV3drs80357795
GWAS Ctlgrs80357795
Max Magnitude6
rs80357795, also known as 4883delTC, c.4764_4765delTC and p.Ala1588_Arg1589AlaCysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357795(;)
Alt rs80357795(;)
Reference rs80357795(TC;TC)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41223166_41223167delGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112395.1,