KEGG   VARIANT: 9152v1
Entry
9152v1                      Variant                                
Name
SLC6A5 mutation
Type
Loss of function
Gene
SLC6A5  sodium- and chloride-dependent glycine transporter 2 isoform 1 [KO:K05038]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604159
Network
nt06544  Neuroactive ligand signaling
Disease
H00769  Hyperekplexia
Reference
PMID:16751771
  Authors
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ
  Title
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
  Journal
Nat Genet 38:801-6 (2006)
DOI:10.1038/ng1814
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