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

rs80357601

From SNPedia

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


Make rs80357601(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092529
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357601
ebirs80357601
HLIrs80357601
Exacrs80357601
Varsomers80357601
Maprs80357601
PheGenIrs80357601
hapmaprs80357601
1000 genomesrs80357601
hgdprs80357601
ensemblrs80357601
gopubmedrs80357601
geneviewrs80357601
scholarrs80357601
googlers80357601
pharmgkbrs80357601
gwascentralrs80357601
openSNPrs80357601
23andMers80357601
23andMe allrs80357601
SNP Nexus

SNPshotrs80357601
SNPdbers80357601
MSV3drs80357601
GWAS Ctlgrs80357601
Max Magnitude6
rs80357601, also known as 3121delA, c.3002_3002delA and p.Glu1001=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357601(;)
Alt rs80357601(;)
Reference rs80357601(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244543delT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019238.11, RCV000048039.3, RCV000159912.2, RCV000163096.1,