The mutation was shown by sequence analysis to be an A2288T transversion in the gene causing a nonconservative Asn763Ile change in the second of the two zinc-finger domains in the encoded protein. (J:113445)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count