C42R (p.Cys42Arg) variant of PMP22 (Peripheral myelin protein 22)
C42R (p.Cys42Arg) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease, type IA; not p. The record also includes published literature and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- rs2508212058
- ClinGen CA398270963
- ClinVar RCV003152871
- ClinVar RCV003581894
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease, type IA; not p
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; Charcot-Marie-Tooth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)