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

rs80357941

From SNPedia

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


Make rs80357941(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094855
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357941
ebirs80357941
HLIrs80357941
Exacrs80357941
Varsomers80357941
Maprs80357941
PheGenIrs80357941
hapmaprs80357941
1000 genomesrs80357941
hgdprs80357941
ensemblrs80357941
gopubmedrs80357941
geneviewrs80357941
scholarrs80357941
googlers80357941
pharmgkbrs80357941
gwascentralrs80357941
openSNPrs80357941
23andMers80357941
23andMe allrs80357941
SNP Nexus

SNPshotrs80357941
SNPdbers80357941
MSV3drs80357941
GWAS Ctlgrs80357941
Max Magnitude6
rs80357941, also known as 795delT, c.676_676delT and p.Cys226Valfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357941(;)
Alt rs80357941(;)
Reference rs80357941(T;T)
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.41246872delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031274.6, RCV000049091.3, RCV000129754.2, RCV000235776.1,