G38A (p.Gly38Ala) variant of SOX10 (Transcription factor SOX-10)
G38A (p.Gly38Ala) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- rs397515387
- ClinGen CA129071
- ClinVar RCV000023179
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. (PMID 20478267)
- Cited in: Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10… (PMID 21965087)