| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS10-2A>G (c.1841-2A>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | spl-2 | Spl. | A->G | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mutation(s) on the other allele: c.2276G>T |
| 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 (%) | |||||
| tccctgatgcagGA |
| tccctgatgcggGA |
| -32.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Geographic origin |
| SP0211200011 | Proband | Male | SPAIN |
| Phenotypic group | Disease |
| nonsyndromic | RP |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 10 | 12525556 | Bernal - Baiget 2003 |