This spontaneous 5bp duplication, c.409_413dup, is predicted to result in a frameshift after the third greek key motif, translation of a stretch of aberrant sequence, and premature termination before the fourth greek key motif (J:341260)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count