Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1296_1299del4p.Gln434ArgfsX79Exon 11Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Ig 5  

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