The molecular lesion is a G-to-A nonsense mutation in codon 847 in exon 6. This is predicted to result in a premature stop codon at codon 257. (J:237905)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count