This mutation involves a rearrangement detected at nucleotide ~7000 using a cDNA clone isolated from a mouse cerebellum library with a human HERC2 probe. (J:56827, J:100221)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count