Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.992-32C>Tp.?Intron 8Intronic variationLikely non disease-causingn.a.n.a.n.a.n.a. n.a. No influence on RNA splicing predicted

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