Variants
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rs750566714

  • Conflicting interpretations of pathogenicity

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Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32853555, 21898658, 31152317)

This SOX10 c.482G>A (p.R161H) variant has been reported previously in one individual with Waardenburg syndrome 2 (PMID: 21898658).

Reference Allele

C


Alternative Allele

T

Chromosome

22


Location

37978082


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.482G>A (p.Arg161His)


Allele

T


Clinical Significance

Conflicting interpretations of pathogenicity

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