A 97 base pair deletion, including the 3'-most 87 base pairs of exon 5 and 10 base pairs of the flanking intron sequence including the exon/intron splice donor recognition sequence, results in a frame shift and premature stop codon in both Clic5A and Clic5B transcripts, effectively resulting in a null mutation of both transcripts. (J:112741)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count