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

rs80357940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;CC) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357940(-;-)
Make rs80357940(CC;CC)
ReferenceGRCh38 38.1/142
Chromosome17
Position43093492
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357940
ebirs80357940
HLIrs80357940
Exacrs80357940
Varsomers80357940
Maprs80357940
PheGenIrs80357940
hapmaprs80357940
1000 genomesrs80357940
hgdprs80357940
ensemblrs80357940
gopubmedrs80357940
geneviewrs80357940
scholarrs80357940
googlers80357940
pharmgkbrs80357940
gwascentralrs80357940
openSNPrs80357940
23andMers80357940
23andMe allrs80357940
SNP Nexus

SNPshotrs80357940
SNPdbers80357940
MSV3drs80357940
GWAS Ctlgrs80357940
Max Magnitude6
rs80357940, also known as 2157insCC, c.2038_2039insCC and p.Lys680?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357940(CC;CC)
Alt rs80357940(CC;CC)
Reference rs80357940(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245509_41245510insGG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111753.1,