This allele has a large genomic deletion which includes exons 2 through 6. The proximal deletion breakpoint has not yet been localized but the most closely flanking proximal microsatellite marker (D4Mit176) was not deleted. (J:83762)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count