Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2215delCp.Arg739GlyfsX112Exon 18Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus, Hypotonia Died before the age of 2 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