c.829G>C (p.Glu277Gln)
Variant ID Exon dbSNP ID
117 Exon 10
Conservation score RNA effect Grantham score Control frequency Polyphen Sift
1.00 unknown 29 >2%
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
Pol2 Pol2   H unknown unknown Exon 10 c.829G>C E277Q Direct sequencing (Sanger)