Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3191C>Ap.Ser1064XExon 24NonsenseDisease-causingn.a.n.a.n.a.n.a. Fn 5  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 7 Adducted thumbs, Hydrocephalus, Hypotonia, Mental retardation, Spastic paraplegia Index case: >15 yrs 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