Variants
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rs200475773

  • Conflicting interpretations of pathogenicity

Your Genotype

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Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

Reference Allele

C


Alternative Allele

T

Chromosome

22


Location

37977990


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.574G>A (p.Gly192Ser)


Allele

T


Clinical Significance

Conflicting interpretations of pathogenicity

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