M70I (p.Met70Ile) variant of GRIA1 (Glutamate receptor 1)
M70I (p.Met70Ile) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual developmental disorder, autosomal dominant 67. The record also includes structural context.
M70I (p.Met70Ile) variant details
- p.Met70Ile
- rs2532321312
- ClinVar RCV004560528
- Uncertain significance
- Intellectual developmental disorder, autosomal dominant 67
- Missense
- ClinVar: Uncertain significance (Intellectual developmental disorder, autosomal dominant 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available