A C-to-T mutation at coding nucleotide 3112 in exon 18 results in an arginine to cysteine substitution at amino acid 1038 (p.R1038C). (J:176249)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count