Q235H (p.Gln235His) variant of MFN2 (Mitofusin-2)
Q235H (p.Gln235His) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2A2. The record also includes published literature and structural context.
Q235H (p.Gln235His) variant details
- p.Gln235His
- rs767601252
- ClinGen CA338438639
- ClinVar RCV002835156
- ClinGen CA338438642
- Pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)