c.21G>T (p.Trp7Cys)
Variant ID Exon SwissProt dbSNP ID OMIM ID
5 Exon 2 - CDS
Conservation score RNA effect Grantham score Control frequency Controls origin Polyphen Sift
1.00 identical to DNA mutation 215 0/150 Italy and Asia
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
COR22 II:1 COR22 male 3 y Pakistan CORS yes yes Exon 2 - CDS 21G>T W7C Direct sequencing (Sanger) Exon 2 - CDS 21G>T W7C Direct sequencing (Sanger)
SLS-1 SLS-1 female Pakistan SLS yes yes first cousins Exon 2 - CDS c.21G>T p.Trp7Cys Direct sequencing (Sanger) Exon 2 - CDS c.21G>T p.Trp7Cys Direct sequencing (Sanger)