An A-to-T transversion at base pair 1064 (reference sequence NM_010635) in exon 3 changes glutamic acid to aspartic acid (p.E339D) within the second zinc finger required for DNA binding in the encoded protein. (J:163685)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count