c.297+36A>G (p.?)
Variant ID | Exon | dbSNP ID |
115 | Intron 5 | rs45468703 |
RNA effect | Control frequency |
unknown | >2% |
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 |
Pol1 | Pol1 | H | unknown | unknown | Intron 5 | IVS5+36A>G | … | Direct sequencing (Sanger) | Brancati (2007) |