c.381_382delinsT (p.Lys127AsnfsX36)
Variant ID Exon
83 Exon 6
Domains RNA effect
CC I RNA stability
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This delins creates a frame shift starting at codon Lys127. The new reading frame ends in a STOP codon 35 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 6 c.381_382delinsT p.Lys127AsnfsX36 Direct sequencing (Sanger) Exon 19 c1860_1861delAA p.Glu620GlufsX7 Direct sequencing (Sanger)