This allele comprises a nucleotide transition of A-to-G at position -293 upstream of the start codon in 5' UTR exon 2 results in conversion of a potential upstream open reading frame initiation methionine codon from ATG to GTG. (J:122083, J:150720)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count