c.2717T>G (p.Leu906Trp)
Variant ID Exon dbSNP ID
126 Exon 25
Conservation score Domains RNA effect Grantham score Polyphen Sift
1.00 SMC,  CC VI unknown 61
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
Pol11 Pol11   H unknown unknown Exon 25 c.2717T>G L906W Direct sequencing (Sanger)