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

rs80357925

From SNPedia

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


Make rs80357925(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43057070
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357925
ebirs80357925
HLIrs80357925
Exacrs80357925
Varsomers80357925
Maprs80357925
PheGenIrs80357925
hapmaprs80357925
1000 genomesrs80357925
hgdprs80357925
ensemblrs80357925
gopubmedrs80357925
geneviewrs80357925
scholarrs80357925
googlers80357925
pharmgkbrs80357925
gwascentralrs80357925
openSNPrs80357925
23andMers80357925
23andMe allrs80357925
SNP Nexus

SNPshotrs80357925
SNPdbers80357925
MSV3drs80357925
GWAS Ctlgrs80357925
Max Magnitude6
rs80357925, also known as 5378delA, c.5259_5259delA and p.Arg1753=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357925(;)
Alt rs80357925(;)
Reference rs80357925(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41209087delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031232.4, RCV000123283.1,