W28* (p.Trp28Ter) variant of PMP22 (Peripheral myelin protein 22)
W28* (p.Trp28Ter) in PMP22 (Peripheral myelin protein 22) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMT1E. The record also includes published literature and structural context.
W28* (p.Trp28Ter) variant details
- p.Trp28Ter
- rs1555568475
- cosmic curated COSV10461
- ClinGen CA398271192
- ClinVar RCV000638157
- Pathogenic
- in CMT1E
- Stop Gained
- EBI: Pathogenic (in CMT1E)
- UniProt: Pathogenic (in CMT1E)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Hereditary Neuropathy with Liability to Pressure Palsies. (PMID 20301566)