This allele contians a G to A transition in codon 68 that is predicted to result in a glutamate to lysine substitution in the encoded protein. Transcripts from this allele are present at similar levels to wild-type. (J:75206)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count