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rs80357970

From SNPedia

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


Make rs80357970(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093056
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357970
ebirs80357970
HLIrs80357970
Exacrs80357970
Varsomers80357970
Maprs80357970
PheGenIrs80357970
hapmaprs80357970
1000 genomesrs80357970
hgdprs80357970
ensemblrs80357970
gopubmedrs80357970
geneviewrs80357970
scholarrs80357970
googlers80357970
pharmgkbrs80357970
gwascentralrs80357970
openSNPrs80357970
23andMers80357970
23andMe allrs80357970
SNP Nexus

SNPshotrs80357970
SNPdbers80357970
MSV3drs80357970
GWAS Ctlgrs80357970
Max Magnitude6

rs80357970, also known as 2594delC, c.2475_2475delC and p.Asp825Glufs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs80357970(;)
Alt rs80357970(;)
Reference rs80357970(C;C)
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.41245073delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031053.7, RCV000047850.5, RCV000131352.2, RCV000236906.1,