rs1482985217
- Pathogenic
Your Genotype
Sign InDescription
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
Phenotypes
ClinVar
Name
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)
Allele
G
Clinical Significance
Pathogenic