c.5813_5817del (p.Thr1938AsnfsX16)
Variant ID Exon dbSNP ID
26 Exon 42
Domains RNA effect
CC XII RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Thr1938. The new reading frame ends in a STOP codon 15 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
27250 27250   Italy LCA unknown unknown Exon 42 c.5813_5817delCTTTA p.Thr1938AsnfsX15 Direct sequencing (Sanger) Intron 26 c.2991+1655A>G p.Cys998X Allele-specific PCR