The mutation has been identified as a C to T transition at nucleotide position 722 of the cDNA sequence (ENSMUST00000113214), which replaces the triplet encoding glutamine at amino acid (aa) position 196 of the 659 aa protein with a stop codon (Q196Ter). (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count