| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS3-6C>T (c.655-6C>T) | Heterozygous | LIKELY CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGC | Ser | spl-6 | Spl. | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NM,NMH,FA,HD |
| 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 (%) | |||||
| tccccccctaagAG |
| tccccctctaagAG |
| -0.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-JA12-O12I- | Proband | Female | 22 |
| Phenotypic group | Disease |
| Not available | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 3 | 11836268 | Verg*s, B., Boureille, F., Goudet, P., Murat, A., Beckers, A., Sassolas, G., ? Calender, A. (2002). Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. The Journal of Clinical Endocrinology and Metabolism, 87(2), 457?65. doi:10.1210/jcem.87.2.8145 |