This is a deletion that begins from a site in the 5' untranslated region, removes the first four coding exons and part of the fifth, and includes the first 168 amino acids (of 253). (J:141595)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count