An insertion of a single A residue after codon 15 of the reading frame. This mutation is predicted to result in a truncated protein consisting of the first 15 amino acids followed by 17 novel amino acids before an in-frame stop codon. (J:68377)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count