A C-to-T transition at coding nucleotide 112 is predicted to result in an arginine to cysteine substitition at codon 38 (p.R38C). (J:1086)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count