H242Y (p.His242Tyr) variant of MFN2 (Mitofusin-2)
H242Y (p.His242Tyr) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease type 2A2. The record also includes published literature and structural context.
H242Y (p.His242Tyr) variant details
- p.His242Tyr
- rs2523036866
- ClinGen CA338438925
- ClinVar RCV003237405
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2A2
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2A2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)