c.1992del (p.Pro665LeufsX10)
Variant ID Exon
31 Exon 20
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Pro665. The new reading frame ends in a STOP codon 9 positions downstream.
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
659   4 y Sweden LCA unknown unknown Exon 20 c.1992delT p.Asp664AspfsX10 DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC