rs554837585
- Uncertain significance
Your Genotype
Sign InDescription
The p.Arg2259His variant in TRIOBP has not been previously reported in individua ls with hearing loss, but has been identified in 7/53636 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s554837585). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Arg22 59His variant is uncertain.
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37769302
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001039141.3(TRIOBP):c.6776G>A (p.Arg2259His)
Allele
A
Clinical Significance
Uncertain significance