An A to T transversion at position 269 resulted in an aspartic acid to valine substitution at amino acid position 90 (D90V) in the N-terminal transactivation domain. (J:121758)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count