N132I (p.Asn132Ile) variant of SOX9 (Transcription factor SOX-9)
N132I (p.Asn132Ile) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Camptomelic dysplasia. The record also includes structural context.
N132I (p.Asn132Ile) variant details
- p.Asn132Ile
- Ensembl rs2143240860
- Likely pathogenic
- Camptomelic dysplasia
- Missense
- ClinVar: Likely pathogenic (Camptomelic dysplasia)
- UniProt: Likely pathogenic
- Structural context available