The mutation is a C-to-T transition point mutation at coding nucleotide 4234 (transcript XM_006540436), which introduces a premature stop codon at a position corresponding to glutamine 1412 in the encoded protein (p.Q1412*). (J:71549)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count