A 2 bp nucleotide deletion at positions 1368 and 1369 cause a frameshift that results in a premature stop and truncation of the encoded protein at position 471. (J:48969)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count