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rs80357528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357528(-;-)
Make rs80357528(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094238
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357528
ebirs80357528
HLIrs80357528
Exacrs80357528
Varsomers80357528
Maprs80357528
PheGenIrs80357528
hapmaprs80357528
1000 genomesrs80357528
hgdprs80357528
ensemblrs80357528
gopubmedrs80357528
geneviewrs80357528
scholarrs80357528
googlers80357528
pharmgkbrs80357528
gwascentralrs80357528
openSNPrs80357528
23andMers80357528
23andMe allrs80357528
SNP Nexus

SNPshotrs80357528
SNPdbers80357528
MSV3drs80357528
GWAS Ctlgrs80357528
Max Magnitude6
rs80357528, also known as 1406insA, c.1287-1288insA and p.Ile429_Asp430?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357528(T;T)
Alt rs80357528(T;T)
Reference rs80357528(;)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246256dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047406.2, RCV000111584.1,