c.1419_1423del (p.Ile474ArgfsX5)
Variant ID Exon
92 Exon 15
Domains RNA effect Control frequency Controls origin
TM III 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 Ile474. The new reading frame ends in a STOP codon 4 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
F57 II-1 F57 male Germany SLS unknown no Exon 15 1419-1423del AATAA K473fsX478 DHPLC Exon 2 - CDS A1G Start codon defect DHPLC