Variants
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rs281797260

  • Pathogenic

Your Genotype

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Description

Reference Allele

G


Alternative Allele

C

Chromosome

22


Location

37977943


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter)


Allele

C


Clinical Significance

Pathogenic

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