c.2055T>C (p.=)
Variant ID Exon
121 Exon 21
RNA effect Control frequency
unknown >2%
Synonymous substitution. Codon GCT changed to GCC. Frequencies of Ala-codons in the human genome: GCT (0.263) / GCC (0.403). 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
Pol6 Pol6   H unknown unknown Exon 21 c.2055T>C A685A Direct sequencing (Sanger)