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rs80357726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357726(-;-)
Make rs80357726(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094628
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357726
ebirs80357726
HLIrs80357726
Exacrs80357726
Varsomers80357726
Maprs80357726
PheGenIrs80357726
hapmaprs80357726
1000 genomesrs80357726
hgdprs80357726
ensemblrs80357726
gopubmedrs80357726
geneviewrs80357726
scholarrs80357726
googlers80357726
pharmgkbrs80357726
gwascentralrs80357726
openSNPrs80357726
23andMers80357726
23andMe allrs80357726
SNP Nexus

SNPshotrs80357726
SNPdbers80357726
MSV3drs80357726
GWAS Ctlgrs80357726
Max Magnitude6
rs80357726, also known as 1021insT, c.902_903insT and p.Lys301?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357726(T;T)
Alt rs80357726(T;T)
Reference rs80357726(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246645_41246646insA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111507.1,