An in-frame 36 bp deletion of coding nucleotides 196-231 (c.196_231del) deletes 12 amino acids in the extracellular domain of the encoded peptide (p.(Arg66_Ser77del)) that are highly conserved among species. (J:57460)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count