Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3089delAp.Asn1030ThrfsX81Exon 23Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 5  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 4 Hydrocephalus, ? Death <1 yr: 3/4 Jouet et al. (1996), Strain et al (1994)

References

YearAuthorTitleJournalVolumePagesWeblink
1996Jouet et al.Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus J. Med. Genet. 33218-250 8728703