GENETIC ENCYCLOPEDIA
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disease: Epilepsy, childhood absence 1

id1166
nameEpilepsy, childhood absence 1
variant-disease NM_021912.5(GABRB3):c.841A>G (p.Thr281Ala) AND Epilepsy, childhood absence 1
NM_000814.6(GABRB3):c.418A>G (p.Met140Val) AND multiple conditions
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) AND multiple conditions
NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln) AND multiple conditions
NM_000814.6(GABRB3):c.417C>T (p.Arg139=) AND multiple conditions
... 60 more