A deletion mutation from exon 10 to exon 13 resulted in the deletion of 11302 base pairs. The mutation is predicted to cause an in-frame deletion of 137 amino acids in the encoded protein. (J:235669)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count