c.6522+12dup (p.?)
Variant ID Exon dbSNP ID
131 Intron 47
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
Pol16 Pol16   H unknown unknown Intron 47 IVS47+5_12insT … Direct sequencing (Sanger)