c.2052+30del (p.?)
Variant ID Exon dbSNP ID
120 Intron 20
RNA effect
unknown
This variant has been described by Brancati et al. The variation was found in a parent but did not segregate in affected offspring.
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
Pol5 Pol5   H unknown unknown Intron 20 IVS20+30delT … Direct sequencing (Sanger)