The mutation is a 7 bp deletion of coding nucleotides 5185-5191 (transcript XM_006540436) that causes a frameshift at arginine 1729. (J:71549)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count