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rs80357889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TGAG) 6 BRCA1 variant considered pathogenic for breast cancer
(TGAG;TGAG) 0 Normal


Make rs80357889(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091670
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357889
ebirs80357889
HLIrs80357889
Exacrs80357889
Varsomers80357889
Maprs80357889
PheGenIrs80357889
hapmaprs80357889
1000 genomesrs80357889
hgdprs80357889
ensemblrs80357889
gopubmedrs80357889
geneviewrs80357889
scholarrs80357889
googlers80357889
pharmgkbrs80357889
gwascentralrs80357889
openSNPrs80357889
23andMers80357889
23andMe allrs80357889
SNP Nexus

SNPshotrs80357889
SNPdbers80357889
MSV3drs80357889
GWAS Ctlgrs80357889
Max Magnitude6
rs80357889, also known as 3977del4, c.3858_3861delTGAG and p.Ser1286_Glu1287?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357889(;)
Alt rs80357889(;)
Reference rs80357889(TGAG;TGAG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41243687_41243690delCTCA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031134.5, RCV000048359.5,