C667F (p.Cys667Phe) variant of ADNP (Q9H2P0)
C667F (p.Cys667Phe) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ADNP-related multiple congenital anomalies - intellectual disability - autism sp. The record also includes published literature and structural context.
C667F (p.Cys667Phe) variant details
- p.Cys667Phe
- rs2515581500
- ClinGen CA408971569
- ClinVar RCV002471821
- Likely pathogenic
- ADNP-related multiple congenital anomalies - intellectual disability - autism sp
- Missense
- ClinVar: Likely pathogenic (ADNP-related multiple congenital anomalies - intellectual disabi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ADNP-Related Helsmoortel-Van der Aa Syndrome. (PMID 27054228)