c.1860_1861del (p.Asp622PhefsX5)
Variant ID Exon
84 Exon 19
RNA effect
RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This deletion creates a frame shift starting at codon Asp622. The new reading frame ends in a STOP codon 4 positions downstream.
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
650 6   23 w (g) MKS unknown unknown Exon 19 c1860_1861delAA p.Glu620GlufsX7 Direct sequencing (Sanger) Exon 6 c.381_382delinsT p.Lys127AsnfsX36 Direct sequencing (Sanger)