This mutation comprises a G-to-A transversion at nucleotide position 952 of the gene sequence, resulting in replacement of aspartate by asparagine at amino acid position 135 (D135N). (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count