D1789N (p.Asp1789Asn) variant of AGRN (Agrin)
D1789N (p.Asp1789Asn) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Congenital myasthenic syndrome 8; not specified; not provided. The record also includes variant effect predictions and published literature.
D1789N (p.Asp1789Asn) variant details
- p.Asp1789Asn
- UniProt VAR 068744
- Conflicting interpretations
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- MetaLR 0.52
- MetaSVM -0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital myasthenic syndrome 8; not specified; not provided)
- UniProt: Conflicting interpretations
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)