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rs80357911

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357911(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094521
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357911
ebirs80357911
HLIrs80357911
Exacrs80357911
Varsomers80357911
Maprs80357911
PheGenIrs80357911
hapmaprs80357911
1000 genomesrs80357911
hgdprs80357911
ensemblrs80357911
gopubmedrs80357911
geneviewrs80357911
scholarrs80357911
googlers80357911
pharmgkbrs80357911
gwascentralrs80357911
openSNPrs80357911
23andMers80357911
23andMe allrs80357911
SNP Nexus

SNPshotrs80357911
SNPdbers80357911
MSV3drs80357911
GWAS Ctlgrs80357911
Max Magnitude6
rs80357911, also known as 1129delA, c.1010_1010delA and p.Glu337=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357911(;)
Alt rs80357911(;)
Reference rs80357911(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41246532delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030967.6, RCV000047309.2, RCV000222143.1,