c.4771C>T (p.Gln1591X)
Variant ID Exon dbSNP ID
8 Exon 36
RNA effect Control frequency Controls origin
RNA stability 0/>95 not mentioned
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
F256 II-1 F256   United States Of America CORS yes no Exon 37 C4771T Q1591X Direct sequencing (Sanger)
F256 II-4 F256   United States Of America CORS yes no Exon 37 C4771T Q1591X Direct sequencing (Sanger)