c.4704+46del (p.?)
Variant ID Exon dbSNP ID
127 Intron 35
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
Pol12 Pol12   H unknown unknown Intron 35 IVS35+40_46delT … Direct sequencing (Sanger)