c.2268G>A (p.=)
Variant ID Exon dbSNP ID
123 Exon 22
RNA effect Control frequency
unknown >2%
Synonymous substitution. Codon TCG changed to TCA. Frequencies of Ser-codons in the human genome: TCG (0.056) / TCA (0.148). This polymorphism has been described by Brancati et al.
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
Pol8 Pol8   H unknown unknown Exon 22 c.2268G>A S756S Direct sequencing (Sanger)