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