Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2433C>Gp.Tyr811XExon 19NonsenseDisease-causingn.a.n.a.n.a.n.a. Fn 3  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ? Index case died at birth. Stillbirth uncle 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