c.5824C>T (p.Gln1942X)
Variant ID Exon
3 Exon 42
Domains RNA effect Control frequency Controls origin
CC XII RNA stability 0/150 Italy and Asia
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
MTI133 II:1 MTI133 male 4 m Palestinian Authority JS + kidney yes yes Exon 42 5824C>T Q1942X Direct sequencing (Sanger) Exon 42 5824C>T Q1942X Direct sequencing (Sanger)
MTI133 II:2 MTI133 male 7 m Palestinian Authority JS yes yes Exon 42 5824C>T Q1942X Direct sequencing (Sanger) Exon 42 5824C>T Q1942X Direct sequencing (Sanger)