The molecular lesion is a T to A transversion at base pair 135,595,053 (v38) on chromosome 3, corresponding to base pair 96,495 in the GenBank genomic region NC_000069 encoding Nfkb1. This corresponds to nucleotide 2,253 in the NM_008689 mRNA sequence, in exon of 18 of 25 total exons, as well as to residue 1,765 in the ENSMUST00000164430 cDNA sequence, in exon 16 of 23 total exons. The mutation results in premature termination of the protein, instead of insertion of leucine (L), at amino acid position 584 (L584Ter). (J:216054)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count