H169P (p.His169Pro) variant of SOX9 (Transcription factor SOX-9)
H169P (p.His169Pro) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Camptomelic dysplasia. The record also includes published literature and structural context.
H169P (p.His169Pro) variant details
- p.His169Pro
- NCI-TCGA Cosmic COSV5542
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- EBI: Pathogenic (in CMD1)
- UniProt: Pathogenic (in CMD1)
- Structural context available
- Cited in: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. (PMID 19033726)
- Cited in: A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella… (PMID 24038782)