The molecular lesion is a A to T at position 1059 on cDNA in exon 38, resulting in an Isoleucine to Phenylalanine at position 275. (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count