N236D (p.Asn236Asp) variant of FOXG1 (Forkhead box protein G1)
N236D (p.Asn236Asp) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of FOXG1 disorder. The record also includes published literature and structural context.
N236D (p.Asn236Asp) variant details
- p.Asn236Asp
- rs2502226349
- ClinGen CA389475686
- ClinVar RCV002511307
- ClinVar RCV003514595
- Likely pathogenic
- FOXG1 disorder
- Missense
- ClinVar: Likely pathogenic (FOXG1 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)