Table 1.
Variant information. The dinucleotide substitution is predicted by conceptual translation to result in a PTC at position 78. The bioinformatics prediction suggests a likely disease causing mutation associated with HIGM1.
| Gene name | CD40LG | CD40LG |
|---|---|---|
| Chromosome | chrX | chrX |
| Position (hg19) | 135732501 | 135732502 |
| Sequence: reference/alternative | C/A | C/A |
| Proband: reference/alternative | 4/160 | 4/168 |
| Mother: reference/alternative | 163/126 | 162/125 |
| Father: reference/alternative | 147/0 | 143/0 |
| Mutation type | Indel | |
| Refseq | NM_000074 | |
| Mutation: cDNA | c.233_234delinsAA | |
| Mutation: protein | p.Ser78* | |
| Predicted effect | Premature truncating codon (PTC), disease causing | |
| Associated phenotype/MIM number | Immunodeficiency with hyper-IgM, type 1; HIGM1/308230 | |