G94fsX222 variant of PMP22 (Peripheral myelin protein 22)
For G94fsX222 in PMP22 (Peripheral myelin protein 22), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as conflicting interpretations. The record also includes structural context.
G94fsX222 variant details
- rs80338763
- Conflicting interpretations
- EBI: ['conflicting-interpretations-of-pathogenicity',
- UniProt: Conflicting interpretations
- Structural context available