Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1977T>Cp.=Exon 16SilentLikely non disease-causingn.a.n.a.n.a.n.a. Ig 1 No influence on RNA splicing predicted

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Aphasia, Mental retardation, Spastic paraplegia   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