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University Medical Center Groningen
Department of Genetics -
L1CAM Mutation Database
Introduction
Database
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Mutations
Protein domains
References
Mutations
Find Mutations
Exon/Intron:
All
Exon 1
Intron 1
Exon 2
Intron 2
Exon 3
Intron 3
Exon 4
Intron 4
Exon 5
Intron 5
Exon 6
Intron 6
Exon 7
Intron 7
Exon 8
Intron 8
Exon 9
Intron 9
Exon 10
Intron 10
Exon 11
Intron 11
Exon 12
Intron 12
Exon 13
Intron 13
Exon 14
Intron 14
Exon 15
Intron 15
Exon 16
Intron 16
Exon 17
Intron 17
Exon 18
Intron 18
Exon 19
Intron 19
Exon 20
Intron 20
Exon 21
Intron 21
Exon 22
Intron 22
Exon 23
Intron 23
Exon 24
Intron 24
Exon 25
Intron 25
Exon 26
Intron 26
Exon 27
Intron 27
Exon 28
Reported classification:
All classifications
Disease-causing
Likely disease-causing
Likely non disease-causing
Non disease-causing
Unknown
Type:
All types
Branch point
Del+ins; frameshift
Deletion
Deletion entire gene
Deletion; frameshift
Duplication
Duplication; frameshift
Effect unknown
Insertion; frameshift
Intronic variation
Missense
Nonsense
RNA splicing defect
Silent
Splice site
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