G2046V (p.Gly2046Val) variant of AGRN (Agrin)
G2046V (p.Gly2046Val) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Congenital myasthenic syndrome 8. The record also includes published literature.
G2046V (p.Gly2046Val) variant details
- p.Gly2046Val
- UniProt VAR 068745
- Uncertain significance
- not provided; Inborn genetic diseases; Congenital myasthenic syndrome 8
- Missense
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Congenital myasthenic syn)
- UniProt: Uncertain significance
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)