Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1124-1G>Ap.?Intron 9Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 Unknown Unknown   Fransen et al. (1997)

References

YearAuthorTitleJournalVolumePagesWeblink
1997Fransen et al.L1-associated diseases: clinical geneticists divide, molecular geneticists unite Hum. Mol. Genet. 61625-1632 9300653