A 2173 base pair duplication that spans exon 11 results in a tandem duplication of the 147 base pair exon 11, which is predicted to result in an additional 49 in-frame amino acids of the NADPH binding domain. (J:169054)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count