Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2219G>Ap.Trp740XExon 18NonsenseDisease-causing n.a.n.a.n.a. Fn 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 Unknown Unknown   Y.Zarate

References

YearAuthorTitleJournalVolumePagesWeblink
 Y.Zarate Personal communication