| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.647G>A | p.Gly216Asp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | GAC | Asp | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Protease domain | Yes, non coding strand | No |
| Mutation(s) on the other allele: c.1061C>T (p.Ala354Val); c.1388delC (p.Pro464HisfsX28) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 1 | 0.00 (pathogenous) | 82 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GR00_3677 | Proband | Unknown | GERMANY |
| Phenotypic group | FVII:c level |
| moderate | 10_<20 |
| c.-323insCCTATATCCT genotype | p.Arg413Gln genotype |
| 0/0 | RQ |
| Reference ID | PubMed ID | Reference |
| 44 | 11092214 | Herrmann FH, Wulff K, Auberger K, Aumann V, Bergmann F, Bergmann K, Bratanoff E, Franke D, Grundeis M, Kreuz W, Lenk H, Losonczy H, Maak B, Marx G, Mauz-Korholz C, Pollmann H, Serban M, Sutor A, Syrbe G, Vogel G, Weinstock N, Wenzel E, Wolf K. Molecular biology and clinical manifestation of hereditary factor VII deficiency. Semin Thromb Hemost. 2000;26(4):393-400. Review. |