c.6031C>T (p.Arg2011X)
Variant ID Exon
55 Exon 44
RNA effect
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
COR145 male 2 y United Kingdom JS + retina unknown no Exon 44 6031C>T R2011X DHPLC Exon 17 1657_1666delA L552fsX572 DHPLC