c.3043G>T (p.Glu1015X)
Variant ID Exon
87 Exon 27
Domains RNA effect
CC V,  SMC 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
712 8   18 w (g) Palestinian Authority ML yes yes Exon 27 c.3043G>T p.Glu1015X Direct sequencing (Sanger) Exon 28 c.3104-1G>A Splice Direct sequencing (Sanger)