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rs80357932

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357932(-;-)
Make rs80357932(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093638
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357932
ebirs80357932
HLIrs80357932
Exacrs80357932
Varsomers80357932
Maprs80357932
PheGenIrs80357932
hapmaprs80357932
1000 genomesrs80357932
hgdprs80357932
ensemblrs80357932
gopubmedrs80357932
geneviewrs80357932
scholarrs80357932
googlers80357932
pharmgkbrs80357932
gwascentralrs80357932
openSNPrs80357932
23andMers80357932
23andMe allrs80357932
SNP Nexus

SNPshotrs80357932
SNPdbers80357932
MSV3drs80357932
GWAS Ctlgrs80357932
Max Magnitude6
rs80357932, also known as 2011insT, c.1892_1893insT and p.Leu631?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357932(T;T)
Alt rs80357932(T;T)
Reference rs80357932(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41245656dupA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047622.3, RCV000111721.1, RCV000213327.1,