c.2217+45T>C (p.?)
Variant ID Exon dbSNP ID
122 Intron 21
RNA effect Control frequency
unknown >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
Pol7 Pol7   H unknown unknown Intron 21 IVS21+44T>C … Direct sequencing (Sanger)