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rs80357997

From SNPedia

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


Make rs80357997(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063889
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357997
ebirs80357997
HLIrs80357997
Exacrs80357997
Varsomers80357997
Maprs80357997
PheGenIrs80357997
hapmaprs80357997
1000 genomesrs80357997
hgdprs80357997
ensemblrs80357997
gopubmedrs80357997
geneviewrs80357997
scholarrs80357997
googlers80357997
pharmgkbrs80357997
gwascentralrs80357997
openSNPrs80357997
23andMers80357997
23andMe allrs80357997
SNP Nexus

SNPshotrs80357997
SNPdbers80357997
MSV3drs80357997
GWAS Ctlgrs80357997
Max Magnitude6
rs80357997, also known as 5256delG, c.5137_5137delG and p.Val1713Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357997(;)
Alt rs80357997(;)
Reference rs80357997(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41215906delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048807.4, RCV000077601.4, RCV000131392.2, RCV000235540.1,