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rs80357742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;TC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357742(-;-)
Make rs80357742(TC;TC)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090945
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357742
ebirs80357742
HLIrs80357742
Exacrs80357742
Varsomers80357742
Maprs80357742
PheGenIrs80357742
hapmaprs80357742
1000 genomesrs80357742
hgdprs80357742
ensemblrs80357742
gopubmedrs80357742
geneviewrs80357742
scholarrs80357742
googlers80357742
pharmgkbrs80357742
gwascentralrs80357742
openSNPrs80357742
23andMers80357742
23andMe allrs80357742
SNP Nexus

SNPshotrs80357742
SNPdbers80357742
MSV3drs80357742
GWAS Ctlgrs80357742
Max Magnitude6
rs80357742, also known as 4302insTC, c.4183_4184insTC and p.Gln1395?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357742(TC;TC)
Alt rs80357742(TC;TC)
Reference rs80357742(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000017.10:g.41242963_41242964dupGA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048470.2, RCV000143835.2, RCV000221513.1, RCV000235957.1,