| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3112C>T | p.Leu1038Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTC | Leu | TTC | Phe | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | conserved AA in cbEGF-like | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): Alu I Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0117 I0002 | Relative | Female | NA | GERMANY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Severity |
| CF-Dolichocephaly | |
| CF-Malar hypoplasia | |
| O-Strabismus | |
| S-Arm span/height >1.05 (M) | |
| SI-Significant striae atrophicae (m)(1) | hip |
| SI-Significant striae atrophicae (m)(1) | abdomen |
| Reference ID | PubMed ID | Reference |
| 275 | 23552953 | Classen CF, Riehmer V, Landwehr C, Kosfeld A, Heilmann S, Scholz C, Kabisch S, Engels H, Tierling S, Zivicnjak M, Schacherer F, Haffner D, Weber RG. "Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis". Hum Genet. 2013 Jul;132(7):825-41. |