Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357521(-;-)
Make rs80357521(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093529
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357521
ebirs80357521
HLIrs80357521
Exacrs80357521
Varsomers80357521
Maprs80357521
PheGenIrs80357521
hapmaprs80357521
1000 genomesrs80357521
hgdprs80357521
ensemblrs80357521
gopubmedrs80357521
geneviewrs80357521
scholarrs80357521
googlers80357521
pharmgkbrs80357521
gwascentralrs80357521
openSNPrs80357521
23andMers80357521
23andMe allrs80357521
SNP Nexus

SNPshotrs80357521
SNPdbers80357521
MSV3drs80357521
GWAS Ctlgrs80357521
Max Magnitude6
rs80357521, also known as 2120insA, c.2001_2002insA and p.Gln667_Leu668?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357521(AC,GTTTCTCTTCTTTTTCTTC;AC,GTTTCTCTTCTTTTTCTTC)
Alt rs80357521(AC,GTTTCTCTTCTTTTTCTTC;AC,GTTTCTCTTCTTTTTCTTC)
Reference rs80357521(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245547dupT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000083024.3, RCV000220934.1,