c.4806G>A (p.=)
Variant ID Exon
128 Exon 36
RNA effect
unknown
Synonymous substitution. Codon ACG changed to ACA. Frequencies of Thr-codons in the human genome: ACG (0.116) / ACA (0.28). 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
Pol13 Pol13   H unknown unknown Exon 36 c.4806G>A T1602T Direct sequencing (Sanger)