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rs80357590

From SNPedia

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


Make rs80357590(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43049192
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357590
ebirs80357590
HLIrs80357590
Exacrs80357590
Varsomers80357590
Maprs80357590
PheGenIrs80357590
hapmaprs80357590
1000 genomesrs80357590
hgdprs80357590
ensemblrs80357590
gopubmedrs80357590
geneviewrs80357590
scholarrs80357590
googlers80357590
pharmgkbrs80357590
gwascentralrs80357590
openSNPrs80357590
23andMers80357590
23andMe allrs80357590
SNP Nexus

SNPshotrs80357590
SNPdbers80357590
MSV3drs80357590
GWAS Ctlgrs80357590
Max Magnitude6
rs80357590, also known as 5454delC, c.5335_5335delC and p.Gln1779Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357590(;)
Alt rs80357590(;)
Reference rs80357590(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.41201209delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031238.4, RCV000048947.3, RCV000129334.2, RCV000159930.2,