c.930A>G (p.=)
Variant ID Exon
118 Exon 11
Domains RNA effect
CC I unknown
Synonymous substitution. Codon GTA changed to GTG. Frequencies of Val-codons in the human genome: GTA (0.114) / GTG (0.468). This variation 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
Pol3 Pol3   H unknown unknown Exon 11 c.930A>G V310V Direct sequencing (Sanger)