Variants
Sign InSign Up

rs200411253

  • Uncertain significance

Your Genotype

Sign In

Description

The Gly2268Asp variant in TRIOBP has not been reported in individuals with heari ng loss. Data from large population studies is insufficient to assess the freque ncy of this variant. This variant has been reported in the dbSNP without any pop ulation information (dbSNP rs200411253). Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of the Gly2268A sp variant.

PM2_Supporting, BP4_Supporting

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37769329


Variant Type

SNP

Genes

ClinVar

Name

NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp)


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.