c.2512A>G (p.Lys838Glu)
Variant ID Exon dbSNP ID
125 Exon 24
Conservation score Domains RNA effect Grantham score Control frequency Polyphen Sift
0.90 SMC,  CC IV unknown 56 >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
Pol10 Pol10   H unknown unknown Exon 24 c.2512A>G K838E Direct sequencing (Sanger)