c.7311_7313del (p.Lys2437del)
Variant ID Exon
97 Exon 54 - CDS
Domains RNA effect Control frequency Controls origin
CC XIII identical to DNA mutation 0/94 Central Europe, Middle East, East Asia and US
This deletion causes the loss of residue Lys2437. This amino acid is conserved in the C. intestinalis orthologue of CEP290.
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
A854 II-9 A854   Pakistan NPHP unknown yes Exon 55 7311-7313delGAA K2437del DHPLC