I8N (p.Ile8Asn) variant of PMP22 (Peripheral myelin protein 22)
I8N (p.Ile8Asn) 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. The record also includes published literature and structural context.
I8N (p.Ile8Asn) variant details
- p.Ile8Asn
- rs2508227523
- ClinGen CA398271756
- ClinVar RCV003742032
- Uncertain significance
- Charcot-Marie-Tooth disease, type I
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)