This allele involves an A to T transversion at position 459 producing a premature stop codon at residue 153 deleting the last seven amimo acids of Pmp22 protein. (J:63755)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count