rs775565659
- Uncertain significance
Your Genotype
Sign InDescription
The p.Arg2277Gln variant in TRIOBP has not been previously reported in individuals with hearing loss but has been identified in 0.017% (4/23080) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37769356
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001039141.3(TRIOBP):c.6830G>A (p.Arg2277Gln)
Allele
A
Clinical Significance
Uncertain significance