c.3175dup (p.Ile1059AsnfsX11)
Variant ID Exon dbSNP ID
11 Exon 28
Domains RNA effect Control frequency Controls origin
SMC RNA stability 0/>95 not mentioned
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This duplication creates a frame shift starting at codon Ile1059. The new reading frame ends in a STOP codon 10 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 29 3175-3176insA I1059fsX1069 Direct sequencing (Sanger) Exon 55 7341-7342insA L2448fsX2455 Direct sequencing (Sanger)
726   3 y France LCA unknown unknown Exon 28 c.3175insA p.Ile1059AsnfsX10 DHPLC Intron 26 c.2991+1655A>G p.Cys998X DHPLC
MTI118 female 12 y Ireland CORS unknown no Exon 28 3167_3175insA I1055fsX1069 DHPLC Exon 41 5668G>T G1890X DHPLC