Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.110T>Ap.Ile37AsnExon 3MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 1 Not detected in one unaffected male relative

Patients

Family# Affected relativesClinical featuresRemarksReference
1 4 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