c.3175del (p.Ile1059X)
Variant ID Exon
81 Exon 28
Domains RNA effect
SMC RNA stability
The reading frame is interrupted by a premature STOP codon.
The mRNA produced might be targeted for nonsense mediated decay (NMD).
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
312 2   27 w (g) Tunisia MKS unknown yes Exon 28 c.3175delA p.Ile1059X Direct sequencing (Sanger) Exon 28 c.3175delA p.Ile1059X Direct sequencing (Sanger)