rs1932477493
- Pathogenic
Your Genotype
Sign InDescription
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
ClinVar
Name
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
Allele
T
Clinical Significance
Pathogenic