This allele expresses both a normal transcript and a mutant transcript initiating in intron 10 that encodes a truncated form of the receptor that lacks most of the extracellular domain. (J:57881)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count