Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1940-1G>Ap.?Intron 15Splice siteDisease-causingn.a.n.a.n.a.Low n.a.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 3 Hydrocephalus   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