A transversion of an A at position 1 of the cDNA to a T. This results in expression from an ATG 19 bp downstream. The phase of this ORF is shifted +1 to produce a novel protein, which may interfere with the normal structural organization of the lens. (J:67888)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count