Variants
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rs727503528

  • Pathogenic

Your Genotype

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Description

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

ClinVar

Name

NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)


Allele

T


Clinical Significance

Pathogenic

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