Exons 10 and 11 are deleted, encoding a total of 66 amino acids. The protein domains deleted include the entire transmembrane domain required for anchoring the mature receptor in the plasma membrane. (J:226591)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count