KEGG   VARIANT: 87v1
Entry
87v1                      Variant                                  
Name
ACTN1 mutation
Type
Loss of function
Gene
ACTN1  actinin alpha 1 [KO:K05699]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102575
Network
nt06546  IgSF CAM signaling
Disease
H01235  Bleeding disorder platelet-type
Reference
  Authors
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
  Title
ACTN1 mutations cause congenital macrothrombocytopenia.
  Journal
Am J Hum Genet 92:431-8 (2013)
DOI:10.1016/j.ajhg.2013.01.015
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