Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2T>Cp.Met1?Exon 1Effect unknownDisease-causingn.a.n.a.n.a.n.a. Sign.pept.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 ?   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