RT-PCR revealed a single nucleotide deletion at position 1999 in exon 12 near the beginning of the region encoding TM3. This causes a frame shift leading to a stop codon in the middle of TM3. (J:84411)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count