Variants
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rs771315446

  • Uncertain significance

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Description

The R2273H variant in the TRIOBP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2273H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R2273H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R2273H as a variant of uncertain significance.

Reference Allele

G


Alternative Allele

A

Chromosome

22


Location

37769344


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_001039141.3(TRIOBP):c.6818G>A (p.Arg2273His)


Allele

A


Clinical Significance

Uncertain significance

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