| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4905delC | p.Gly1636AlafsX4 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACC | Thr | del1c | Fs. | Stop at 1639 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #23 |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA12MIA F0001 I0001 | Proband | Male | NA | ? (17 years old) | U.S.A. |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Age |
| S-Arachnodactyly (M) | 17 |
| S-Increased body length | 17 |
| Reference ID | PubMed ID | Reference |
| 160 | 17224687 | Miller TE, You L, Myerburg RJ, Benke PJ, Bishopric NH. "Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases". Genet Med. 2007 Jan;9(1):23-33. |