Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2260T>Ap.Trp754ArgExon 18MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Fn 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 4 Hydrocephalus, ? Index case: > 15 yrs Vos et al. (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429