Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Gal J. Personal communication   

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 3c.197+5G>Cp.?RNA splicing defectDisease-causing Details
Ig 4Exon 9c.1108G>Ap.Gly370ArgMissenseDisease-causing Details
Ig 5Exon 12c.1490G>Ap.Cys497TyrMissenseDisease-causing Details
Ig 6Exon 13c.1672C>Tp.Arg558XNonsenseDisease-causing Details
Fn 2Exon 18c.2215C>Tp.Arg739TrpMissenseUnknown Details
Fn 2Exon 18c.2252G>Cp.Arg751ProMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1   c.1108G>A p.Gly370ArgExon 9  
2 1 c.2252G>C p.Arg751ProExon 18  
3   c.1490G>A p.Cys497TyrExon 12  
4   c.1672C>T p.Arg558XExon 13  
5   c.197+5G>C p.?Intron 3