A C to G transversion was created in BAC:RP11-288E19 from Children's Hospital Oakland Research Institute. This resulted in a proline to arginine change at codon 385 of the human BHLHE41. (J:151927)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count