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GENATLAS PHENOTYPE
last update : 25-10-2018
Symbol ARCC1
Location 21q22.3
Name congenital cataract, autosomal recessive 1
Other name(s)
  • cataract 9, multiple type, with or without microcornea
    • Corresponding gene CRYAA
    Other symbol(s) ARCC, CTRCT9
    Main clinical features in an inbred Jewish Persian family
    Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name crystallin, alphaA
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein a Gt o A substitution resulting in a premature stop codon and in a truncated form
    Remark(s)