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

rs80357510

From SNPedia

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


Make rs80357510(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092501
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357510
ebirs80357510
HLIrs80357510
Exacrs80357510
Varsomers80357510
Maprs80357510
PheGenIrs80357510
hapmaprs80357510
1000 genomesrs80357510
hgdprs80357510
ensemblrs80357510
gopubmedrs80357510
geneviewrs80357510
scholarrs80357510
googlers80357510
pharmgkbrs80357510
gwascentralrs80357510
openSNPrs80357510
23andMers80357510
23andMe allrs80357510
SNP Nexus

SNPshotrs80357510
SNPdbers80357510
MSV3drs80357510
GWAS Ctlgrs80357510
Max Magnitude6
rs80357510, also known as 3148delCT, c.3029_3030delCT and p.Pro1010Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357510(;)
Alt rs80357510(;)
Reference rs80357510(CT;CT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41244518_41244519delAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048053.4, RCV000077536.4, RCV000131906.2, RCV000235127.1,