| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS5-1G>A (c.572-1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTT | Val | spl-1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mutation(s) on the other allele: c.749C>T (p.Ser250Phe) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| tgttttacacagTT |
| tgttttacacaaTT |
| -33.6 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CH11_001 | Proband | Unknown | CHINA |
| Phenotypic group | FVII:c level |
| mild | 2_<5 |
| c.-323insCCTATATCCT genotype | p.Arg413Gln genotype |
| 0/0 | RR |
| Reference ID | PubMed ID | Reference |
| 74 | 21372693 | Jiang M, Wang Z, Yu Z, Bai X, Su J, Cao L, Zhang W, Ruan C. A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency. Blood Coagul Fibrinolysis. 2011 Jun;22(4):264-70. |