c.4732G>T (p.Glu1578X)
| Variant ID | Exon | dbSNP ID |
| 1 | Exon 36 | rs62640573 |
| RNA effect | Control frequency | Controls origin |
| RNA stability | 0/150 | Italy and Asia |
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
| Patient information | Allele 1 | Allele 2 | |||||||||||||||
| Patient ID | Family ID | Gender | Age | Origin | Disease | Segregation | Parental consanguinity | Consanguinity degree | Exon/intron | Nucleotide nomencl. | Protein nomencl. | Detection method | Exon/intron | Nucleotide nomencl. | Protein nomencl. | Detection method | Reference |
| COR27 V:1 | COR27 | female | 15 y | Italy | JS + retina | yes | yes | third cousins | Exon 36 | 4732G>T | E1578X | Direct sequencing (Sanger) | Exon 36 | 4732G>T | E1578X | Direct sequencing (Sanger) | Valente (2006) |
| COR27 V:2 | COR27 | female | 3 y | Italy | JS + retina | yes | yes | third cousins | Exon 36 | 4732G>T | E1578X | Direct sequencing (Sanger) | Exon 36 | 4732G>T | E1578X | Direct sequencing (Sanger) | Valente (2006) |
| COR27 V:4 | COR27 | female | 10 y | Italy | JS + retina | yes | yes | third cousins | Exon 36 | 4732G>T | E1578X | Direct sequencing (Sanger) | Exon 36 | 4732G>T | E1578X | Direct sequencing (Sanger) | Valente (2006) |