Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.841_845del5p.Gly281HisfsX25Exon 8Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Ig 3  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 3 Hydrocephalus Index case >24yrs, younger brother still alive, uncle died in early infancy Takechi et al. (1996)

References

YearAuthorTitleJournalVolumePagesWeblink
1996Takechi et al.A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus Hum. Genet. 97353-356 8786080