Variants
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rs1932477493

  • Pathogenic

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Description

Variant interpretted as Pathogenic and reported on 08-21-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

1. de novo occurrence. 2. supporting evidences from functional studies: reporter assay confirmed severe disruption of MITF transcription activation activity ; subcellular localization study indicated deceased nuclear localization compared to wild type SOX10 and western blot analysis demonstrated the detection of aberrant size of the altered protein.

Reference Allele

G


Alternative Allele

T

Chromosome

22


Location

37983696


Variant Type

SNP

Genes

ClinVar

Name

NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)


Allele

T


Clinical Significance

Pathogenic

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