| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3989dup | p.His1331ThrfsX19 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GCA | Ala | ins1c | Fs. | Stop at 1349 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #18 |
| At the mRNA level | On restriction map |
| Duplication flanked by direct repeats | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| USA15BOS F0001 I0001 | Proband | Male | familial | U.S.A. |
| Phenotypic group | Disease |
| NA | Classical MFS + |
| Symptom | Severity |
| C-Cardiac malformation | Atrial septal defect |
| S-Abnormal ears | |
| S-Arachnodactyly (M) | |
| SI-Other herniae |
| Reference ID | PubMed ID | Reference |
| 186 | 20012798 | Chiu CH, Thakuria J, Agrawal PB. "Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies". Indian J Pediatr. 2010 Feb;77(2):208-9. |