The molecular lesion is a 13 base pair insertion in exon 1 resulting in a frame shift and the introduction of a premature stop codon. The encoded protein is predicted to terminate after 28 amino acids (26 endogenous and 2 novel amino acids). (J:272648)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count