This allele contains a large genomic deletion that begins approximately 6kb upstream of the melanocyte-specific 5' end and includes the heart-specific 5'end encompassing exons 1H,1D and 1B. (J:21366, J:132153)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count