c.2906dup (p.Tyr969X)
Variant ID Exon
85 Exon 26
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).
This duplication interrupts the reading frame prematurely: codon Tyr969 is replaced by a STOP codon.
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
387 7   27 w (g) France ML yes unknown Exon 26 c.2906dupA p.Tyr969X Direct sequencing (Sanger) Exon 31 c.3793C>T p.Gln1265X Direct sequencing (Sanger)