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disease: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

id758
nameCerebellar ataxia, deafness, and narcolepsy, autosomal dominant
variant-disease NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) AND Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) AND Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) AND Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) AND Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) AND multiple conditions