rs727503528
- Pathogenic
Your Genotype
Sign InDescription
The Arg2200X variant in TRIOBP has not been reported in individuals with hearing loss or in large population studies. This nonsense variant leads to a premature termination codon at position 2200, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Reference Allele
C
Alternative Allele
T
Chromosome
22
Location
37769050
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)
Allele
T
Clinical Significance
Pathogenic