Sequence analysis showed that this allele comprises a T-to-A transversion 11 bp upstream of exon 8 in intron 7. Sequencing of the complete coding region of the mRNA of this allele shows that this transversion results in the deletion of exon 8. (J:2880)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count