Variants
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rs1482985217

  • Pathogenic

Your Genotype

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Description

1. de novo occurrence. 2. supporting evidences from functional studies: reporter assay confirmed sever disruption of MITF transcription activation activity ; subcellular localization study indicated deceased nuclear localization compared to wildtype SOX10.

Reference Allele

A


Alternative Allele

G

Chromosome

22


Location

37978085


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)


Allele

G


Clinical Significance

Pathogenic

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