This alelle is a spontaneous deletion of 40,035 bp extending from intron 1, 2,376 bp upstream of exon 2, to the 3 prime untranslated region, 199 bp downstream of the stop codon in exon 25, with an insertion into this deletion site of a 74 bp fragment derived from the 3 prime UTR of this gene (J:215824)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count