Variants
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rs536411182

  • Uncertain significance

Your Genotype

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Description

The p.Arg2259Cys variant in TRIOBP has not been previously reported in individua ls with hearing loss, but has been identified in 0.03% (11/34234) of Latino chro mosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction t ools and conservation analysis suggest that the p.Arg2259Cys variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Arg2259Cys variant is u ncertain. ACMG/AMP Criteria applied: PP3.

Reference Allele

C


Alternative Allele

T

Chromosome

22


Location

37769301


Variant Type

SNP

Genes

ClinVar

Name

NM_001039141.3(TRIOBP):c.6775C>T (p.Arg2259Cys)


Allele

T


Clinical Significance

Uncertain significance

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