A C-to-T point mutation at coding nucleotide 1979 (transcript NM_021099) results in a threonine to methionine substitution at amino acid 660 (p.T660M). (J:10528, J:24351)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count