The mutation is a 4 bp deletion (tggtaGTACgttcg to tggtagttcg) in exon 7 of the gene that creates a frameshift mutation in the mature domain. (J:39260)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count