A C-to-T transition mutation at nucleotide 273 of the cDNA causes a nonsense mutation, resulting in premature termination at codon 41 of the gene. (J:136575)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count