Sequence analysis reveals a T to A transversion at the first base of codon 72 leading to a serine to threonine substitution in the second membrane domain of Pmp22. (J:79382)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count