A point mutation of the splice donor site of the intron between exon 25 and exon 26 caused skipping of exon 25 during RNA splicing without disrupting the reading frame. The resulting transcript has a 77 residue deletion. (J:106442)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count