This mutation was identified in an ENU mutagenesis screen. It constitutes a T-to-C transition at nucleotide position 2612 (T2612C), in the 3' untranslated region (UTR).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count