This allele contains a missense mutation resulting from a C to T transition at coding nucleotide 2656 producing an amino acid substitution of arginine with tryptophan at codon 886 (p.R886W). (J:93008)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count