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

rs80357823

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357823(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43051075
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357823
ebirs80357823
HLIrs80357823
Exacrs80357823
Varsomers80357823
Maprs80357823
PheGenIrs80357823
hapmaprs80357823
1000 genomesrs80357823
hgdprs80357823
ensemblrs80357823
gopubmedrs80357823
geneviewrs80357823
scholarrs80357823
googlers80357823
pharmgkbrs80357823
gwascentralrs80357823
openSNPrs80357823
23andMers80357823
23andMe allrs80357823
SNP Nexus

SNPshotrs80357823
SNPdbers80357823
MSV3drs80357823
GWAS Ctlgrs80357823
Max Magnitude6
rs80357823, also known as 5438insC, c.5319_5320insC and p.Thr1773_Asn1774?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357823(C;C)
Alt rs80357823(C;C)
Reference rs80357823(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41203093dupG
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000048927.3, RCV000074358.8, RCV000131363.2,