c.613C>T (p.Arg205X)
Variant ID Exon OMIM ID
80 Exon 9
Domains RNA effect
CC I 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
4 1   34 w (g) Morocco MKS yes yes Exon 9 c.613C>T p.Arg205X Direct sequencing (Sanger) Exon 9 c.613C>T p.Arg205X Direct sequencing (Sanger)
5 1   18 w (g) Morocco MKS yes yes Exon 9 c.613C>T p.Arg205X Direct sequencing (Sanger) Exon 9 c.613C>T p.Arg205X Direct sequencing (Sanger)