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

rs80357522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 Normal


Make rs80357522(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093570
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357522
ebirs80357522
HLIrs80357522
Exacrs80357522
Varsomers80357522
Maprs80357522
PheGenIrs80357522
hapmaprs80357522
1000 genomesrs80357522
hgdprs80357522
ensemblrs80357522
gopubmedrs80357522
geneviewrs80357522
scholarrs80357522
googlers80357522
pharmgkbrs80357522
gwascentralrs80357522
openSNPrs80357522
23andMers80357522
23andMe allrs80357522
SNP Nexus

SNPshotrs80357522
SNPdbers80357522
MSV3drs80357522
GWAS Ctlgrs80357522
Max Magnitude6
rs80357522, also known as 2080delA, c.1961_1961delA and p.Lys654Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357522(;)
Alt rs80357522(;)
Reference rs80357522(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41245587delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031019.8, RCV000047660.6, RCV000130764.2, RCV000236783.1,