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rs80357630

From SNPedia

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


Make rs80357630(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093980
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357630
ebirs80357630
HLIrs80357630
Exacrs80357630
Varsomers80357630
Maprs80357630
PheGenIrs80357630
hapmaprs80357630
1000 genomesrs80357630
hgdprs80357630
ensemblrs80357630
gopubmedrs80357630
geneviewrs80357630
scholarrs80357630
googlers80357630
pharmgkbrs80357630
gwascentralrs80357630
openSNPrs80357630
23andMers80357630
23andMe allrs80357630
SNP Nexus

SNPshotrs80357630
SNPdbers80357630
MSV3drs80357630
GWAS Ctlgrs80357630
Max Magnitude6
rs80357630, also known as 1670delT, c.1551_1551delT and p.Phe517Leufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357630(;)
Alt rs80357630(;)
Reference rs80357630(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41245997delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047520.3, RCV000111645.1,