Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1933A>Tp.Ile645PheExon 15MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Fn 1 De novo

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Unknown   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