KEGG   VARIANT: 1213v1
Entry
1213v1                      Variant                                
Name
CLTC mutation
Type
Loss of function
Gene
CLTC  clathrin heavy chain 1 isoform 1 [KO:K04646]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 118955
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06550  Lysosome biogenesis
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
PMID:26822784
  Authors
DeMari J, Mroske C, Tang S, Nimeh J, Miller R, Lebel RR
  Title
CLTC as a clinically novel gene associated with multiple malformations and developmental delay.
  Journal
Am J Med Genet A 170A:958-66 (2016)
DOI:10.1002/ajmg.a.37506
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