Variants
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rs1569169273

  • Pathogenic

Your Genotype

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Description

The K172X nonsense variant in the SOX10 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population databases (Lek et al., 2016). The K172X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. In summary, we interpret this variant as pathogenic.

Reference Allele

T


Alternative Allele

A

Chromosome

22


Location

37978050


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.514A>T (p.Lys172Ter)


Allele

A


Clinical Significance

Pathogenic

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