| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS6+1G>A (c.912+1G>A) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl+1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,RP,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 (%) | |||||
| AAGgtgggg |
| AAGatgggg |
| -30.6 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-TH05-J05A- | Proband | Male | 51 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 15 | 15714081 | Klein, R. D., Salih, S., Bessoni, J., & Bale, A. E. (2005). Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics in Medicine?: Official Journal of the American College of Medical Genetics, 7(2), 131?8. doi:10.109701.GIM.0000153663.62300.F8 |