c.1985A>T (p.Gln662Leu)
Variant ID Exon
62 Exon 20
Conservation score Domains RNA effect Grantham score Polyphen Sift
1.00 CC II identical to DNA mutation 113
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
MTI328 male 8 y United States Of America CORS unknown no Exon 20 1985A>T Q662X DHPLC Exon 46 6277delG V2092fsX2096 DHPLC