This allele comprises a C-to-T that introduces a stop codon at arginine codon 370 between the second helix and the leucine zipper domains (NM_001113198.1:c.1108C>T, p.(Arg370*)). (J:21366)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count