A mutation in the splice acceptor site resulted in a V1688X substitution. This mutation putatively results in a protein lacking only the most C-terminal NLS, SANT, and BRK domains. (J:104123)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count