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rs80357634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357634(-;-)
Make rs80357634(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position43091622
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357634
ebirs80357634
HLIrs80357634
Exacrs80357634
Varsomers80357634
Maprs80357634
PheGenIrs80357634
hapmaprs80357634
1000 genomesrs80357634
hgdprs80357634
ensemblrs80357634
gopubmedrs80357634
geneviewrs80357634
scholarrs80357634
googlers80357634
pharmgkbrs80357634
gwascentralrs80357634
openSNPrs80357634
23andMers80357634
23andMe allrs80357634
SNP Nexus

SNPshotrs80357634
SNPdbers80357634
MSV3drs80357634
GWAS Ctlgrs80357634
Max Magnitude6
rs80357634, also known as 4027insT, c.3908_3909insT and p.Leu1303?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357634(T;T)
Alt rs80357634(T;T)
Reference rs80357634(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243640dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000112210.1, RCV000165149.1,