c.1984C>T (p.Gln662X)
| Variant ID | Exon |
| 89 | Exon 20 |
| Domains | RNA effect |
| CC II | RNA stability |
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 |
| 03/485 | 10 | 23 w (g) | France | ML | unknown | unknown | Exon 20 | c.1984C>T | p.Gln662X | Direct sequencing (Sanger) | Baala (2007) | ||||||
| 05/158 | 10 | 18 w (g) | France | ML | unknown | unknown | Exon 20 | c.1984C>T | p.Gln662X | Direct sequencing (Sanger) | Baala (2007) | ||||||