| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS9-4C>T (c.1351-4C>T) | Heterozygous | LIKELY NEUTRAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTG | Val | spl-4 | Spl. | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,CH |
| 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 (%) | |||||
| ccactggcccagGT |
| ccactggctcagGT |
| -0.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-HA02-A14D- | Proband | Male | 68 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 31 | 10647896 | MEN I gene mutations in sporadic adrenal adenomas. Schulte KM1, Heinze M, Mengel M, Simon D, Scheuring S, K*hrer K, R*her HD. Hum Genet. 1999 Dec;105(6):603-10. |