c.7035-38C>G (p.?)
Variant ID | Exon | dbSNP ID |
133 | Intron 51 | rs45477492 |
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 |
Pol18 | Pol18 | H | unknown | unknown | Intron 51 | IVS51-37C>G | … | Direct sequencing (Sanger) | Brancati (2007) |