A C to G transversion at nucleotide position 432 in exon 3 of Cryge that creates a premature termination signal and results in a truncated protein after amino acid 143. (J:50319)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count