A636T (p.Ala636Thr) variant of GRIA1 (Glutamate receptor 1)
A636T (p.Ala636Thr) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Intellectual developmental disorder, autosomal dominant 67; Intellectual develop. The record also includes published literature and structural context.
A636T (p.Ala636Thr) variant details
- p.Ala636Thr
- rs587776937
- ClinGen CA130665
- NCI-TCGA Cosmic COSV5359
- cosmic curated COSV53598
- Pathogenic/Likely pathogenic
- Intellectual developmental disorder, autosomal dominant 67; Intellectual develop
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Intellectual developmental disorder, autosomal dominant 67; Inte)
- EBI: Pathogenic (in MRD67)
- UniProt: Pathogenic (in MRD67)
- Structural context available
- Cited in: Diagnostic exome sequencing in persons with severe intellectual disability. (PMID 23033978)
- Cited in: Synaptic, transcriptional and chromatin genes disrupted in autism. (PMID 25363760)