GENETIC ENCYCLOPEDIA
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disease: Spinocerebellar ataxia autosomal recessive 1

id4185
nameSpinocerebellar ataxia autosomal recessive 1
descriptionAtaxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).
variant-disease NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) AND Spinocerebellar ataxia autosomal recessive 1
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) AND Spinocerebellar ataxia autosomal recessive 1
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) AND Spinocerebellar ataxia autosomal recessive 1
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) AND Spinocerebellar ataxia autosomal recessive 1
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) AND Spinocerebellar ataxia autosomal recessive 1
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