c.2343T>C (p.=)
Variant ID Exon
124 Exon 22
Domains RNA effect
CC IV unknown
Synonymous substitution. Codon AAT changed to AAC. Frequencies of Asn-codons in the human genome: AAT (0.464) / AAC (0.536). This polymorphism has been described by Brancati et al. The variation was found in a parent but did not segregate in affected offspring.
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
Pol9 Pol9   H unknown unknown Exon 22 c.2343T>C N781N Direct sequencing (Sanger)