A T-to-A point mutation at postition 729 of the cDNA (NM_026273) results in premature truncation at position 243 of the encoded protein (p.C243*). (J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count