KEGG   VARIANT: 778v1
Entry
778v1                      Variant                                 
Name
CACNA1F mutation
Type
Loss of function
Gene
CACNA1F  calcium voltage-gated channel subunit alpha1 F [KO:K04853]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300110
Network
nt06528  Calcium signaling
Disease
H00481  Cone-rod dystrophy and cone dystrophy
H00690  Aland Island eye disease
H00787  Congenital stationary night blindness
Reference
PMID:33985586
  Authors
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
  Title
Calcium channelopathies and intellectual disability: a systematic review.
  Journal
Orphanet J Rare Dis 16:219 (2021)
DOI:10.1186/s13023-021-01850-0
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