The quivering mutation is a C-to-T transition point mutation at codiung nucleotide 6397 (transcript XM_006540436), which introduces a premature stop codon at arginine 2133 in the encoded protein (p.R2133*). (J:71549)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count