The molecular lesion is a 26 bp deletion in exon 1 resulting in a frame shift and the introduction of a premature stop codon. This is predicted to truncate the encoded protein after 85 amino acids (23 endogenous and 62 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