The mutation is a frameshift due to a deletion of a single nucleotide at position 549. This mutation is predicted to result in a protein that continues out of frame for 12 amino acids before terminating. (J:4636)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count