c.5163del (p.Thr1722GlnfsX2)
Variant ID Exon
30 Exon 38
Domains RNA effect Control frequency Controls origin
CC XII RNA stability 0/94 Central Europe, Middle East, East Asia and US
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Thr1722. The new reading frame ends in a STOP codon 1 position 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
13011   5 m Switzerland LCA unknown unknown Exon 38 c.5163delT p.The1721fsX2 DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
13045   11 m Switzerland LCA unknown unknown Exon 38 c.5163delT p.The1721fsX2 DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
13108   3 m Switzerland LCA unknown unknown Exon 38 c.5163delT p.The1721fsX2 DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
COR083 female 2 y Switzerland CORS unknown no Exon 38 5163delT T1721fsX1723 DHPLC Exon 38 5163delT T1721fsX1723 DHPLC
F101 II-2 F101 male United States Of America CORS yes no Exon 39 5163delT T1721fsX1723 DHPLC Exon 13 1066-1G>A splice site DHPLC