This allele contains two mutations in its coding region: an early stop codon C-terminal to the LA domains, which deletes most of the protein, and a splice site mutation that causes a second premature stop codon. (J:119654)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count