| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS4-9G>A (c.784-9G>A) | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl-9 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 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 (%) | |||||
| tctctccttcggctc |
| tctctccttcAgctc |
| 31.6 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-CU19-M01R- | Relative | Female | 53 |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 24 | 10576763 | N Hai, N Aoki, A Matsuda, T Mori, and S Kosugi Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1) Eur J Endocrinol 141 475-480, doi: 10.1530/eje.0.1410475 |