c.7318_7321dup (p.Leu2441SerfsX16)
Variant ID Exon
68 Exon 54 - CDS
RNA effect
unknown
This duplication creates a frame shift starting at codon Leu2441. 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
MTI111a MTI111 male 13 y Laos CORS yes no Exon 54 - CDS 7321dupCTCT L2440fsX2456 DHPLC Exon 44 6072C>A Y2024X DHPLC
MTI111b MTI111 female 28 y Laos CORS yes no Exon 54 - CDS 7321dupCTCT L2440fsX2456 DHPLC Exon 44 6072C>A Y2024X DHPLC