c.7341dup (p.Leu2448ThrfsX8)
Variant ID Exon
10 Exon 54 - CDS
Domains RNA effect Control frequency Controls origin
KID II,  CC XIII unknown 0/>95 not mentioned
This duplication creates a frame shift starting at codon Leu2448. The new reading frame ends in a STOP codon 7 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
A197 II-1 A197   Denmark JS + retina unknown no Exon 55 7341-7342insA L2448fsX2455 Direct sequencing (Sanger) Exon 29 3175-3176insA I1059fsX1069 Direct sequencing (Sanger)
14964 14964   Germany LCA unknown unknown Exon 54 - CDS c.7341dupA p.Leu2448ThrfsX7 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR