| 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 |
| Other variation(s) reported for this sample: c.1252G>A |
| 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 |
| 02-GE04-J15S- | Proband | Male | 59 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 7 | 9683585 | Giraud, S., Zhang, C. X., Serova-Sinilnikova, O., Wautot, V., Salandre, J., Buisson, N., ? Calender, A. (1998). Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. American Journal of Human Genetics, 63(2), 455?67. doi:10.1086/301953 |