Username:
Password:
University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
Database
Submit data
Contact
Mutations
Protein domains
References
Reference details
Author
Year
Journal
Pages
Volume
Title
Weblink
Silan et al
2005
Prenat Diagn
57-59
25(1)
A novel L1CAM mutation with L1 spectrum disorders
15662685
Mutations mentioned in reference
Protein Domain
Exon/Intron
DNA Change
Protein Change
Type
Reported Classification
Details
LOVD ID
Ig 5
Exon 11
c.1375C>T
p.Gln459X
Nonsense
Disease-causing
Details
Patients
Family
# Affected relatives
DNA change
Protein change
Exon/Intron
Clinical features
Remarks
1
9
c.1375C>T
p.Gln459X
Exon 11
(Dys)agenesis corpus callosum, Hydrocephalus
Index case: terminated pregnancy. Case 2 > 6 yrs: HC, MR, SP, AT