c.6072C>A (p.Tyr2024X)
Variant ID Exon
67 Exon 44
RNA effect
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
MTI111a MTI111 male 13 y Laos CORS yes no Exon 44 6072C>A Y2024X DHPLC Exon 54 - CDS 7321dupCTCT L2440fsX2456 DHPLC
MTI111b MTI111 female 28 y Laos CORS yes no Exon 44 6072C>A Y2024X DHPLC Exon 54 - CDS 7321dupCTCT L2440fsX2456 DHPLC