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rs80357891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;AAAG) 6 BRCA1 variant considered pathogenic for breast cancer
(GAAA;GAAA) 0 common in clinvar
Make rs80357891(-;-)
Make rs80357891(AAAG;AAAG)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092852
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357891
ebirs80357891
HLIrs80357891
Exacrs80357891
Varsomers80357891
Maprs80357891
PheGenIrs80357891
hapmaprs80357891
1000 genomesrs80357891
hgdprs80357891
ensemblrs80357891
gopubmedrs80357891
geneviewrs80357891
scholarrs80357891
googlers80357891
pharmgkbrs80357891
gwascentralrs80357891
openSNPrs80357891
23andMers80357891
23andMe allrs80357891
SNP Nexus

SNPshotrs80357891
SNPdbers80357891
MSV3drs80357891
GWAS Ctlgrs80357891
Max Magnitude6
rs80357891, also known as 2795del4, c.2676_2679delAAAG and p.Leu892_Lys893?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357891(;)
Alt rs80357891(;)
Reference rs80357891(GAAA;GAAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41244866_41244869delTTTC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031062.7, RCV000047925.3, RCV000131877.2,