Variants
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rs74315518

  • Pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

A

T

Chromosome

22


Location

37974144


Variant Type

SNP

Genes

Phenotypes

ClinVar

Name

NM_006941.4(SOX10):c.752C>A (p.Ser251Ter)


Allele

T


Clinical Significance

Pathogenic

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