A T-to-A transversion mutation at nucleotide 1769 results in a nonsense mutation in which codon 522 is altered from one encoding arginine to a termination codon. (J:166679)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count