No genomic alterations identified within ~ 1.25 megabases of gene. Transcript decreased to 5% of wild-type level. Probable mutation in a transcriptional regulatory element of the gene. (J:44601, J:100221)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count