Table 4.
Summary of RH alleles that require modification of data analysis or algorithm for assignment
| Genotype | RBC phenotype | cDNA location | Genomic coordinates | Consideration for correct assignment |
|---|---|---|---|---|
| RHD*DAU0 | D+ | Exon 8, c.1138C>T (p.Thr379Met) | NC_000001.11:g.25317062T>C | Reference sequence and increased genomic coverage |
| RHCE*ce48C | c+e+ | Exon 1, c.48G>C (p.Trp16Cys) | NC_000001.11:g.25420739G | Reference sequence and increased genomic coverage |
| RHD*Ce | C+ | 109-bp intron 2 insertion | NC_000001.11:g.25732088-25732107 | Exon copy number calculation |
| RHD*Dpsi | D– | 37-bp insertion | NC_000001.11:g.25627431-25627454dup | Use of stop codon to detect |
| RHD*DIIIa-CE(4-7)-D | C+ partial, D– | Exons 4-7 | NA | Detection of novel insert for assignment to RHD rather than RHCE |
NT, not tested; RBC, red blood cell.