P35S (p.Pro35Ser) variant of TBX5 (T-box transcription factor TBX5)
P35S (p.Pro35Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Holt-Oram syndrome. The record also includes structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- NCI-TCGA Cosmic COSV5986
- cosmic curated COSV59864
- Likely pathogenic
- Holt-Oram syndrome
- Missense
- ClinVar: Likely pathogenic (Holt-Oram syndrome)
- UniProt: Likely pathogenic
- Structural context available