Variants
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rs748234376

  • Uncertain significance

Your Genotype

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Description

The p.Arg258Gln variant in SOX10 has not been reported in individuals with heari ng loss or Waardenburg syndrome, but has been identified in 8/34416 Latino chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs748234376). Although this variant has been seen in the general popu lation, its frequency is not high enough to rule out a pathogenic role. Computat ional prediction tools and conservation analysis suggest that the p.Arg258Gln va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. In summary, the clinical significance of the p.Arg258 Gln variant is uncertain.

Reference Allele

C


Alternative Allele

A

T

Chromosome

22


Location

37974123


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.773G>A (p.Arg258Gln)


Allele

T


Clinical Significance

Uncertain significance

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