c.6684T>G (p.Asn2228Lys)
Variant ID Exon
132 Exon 49
Conservation score Domains RNA effect Grantham score Polyphen Sift
1.00 CC XIII unknown 94
This variant 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
Pol17 Pol17   H unknown unknown Exon 49 c.6684T>G N2228K Direct sequencing (Sanger)