Variants
Sign InSign Up

rs554837585

  • Uncertain significance

Your Genotype

Sign In

Description

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

ClinVar

Name

NM_001039141.3(TRIOBP):c.6776G>A (p.Arg2259His)


Allele

A


Clinical Significance

Uncertain significance

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.