N317T (p.Asn317Thr) variant of SLC2A1 (P11166)
N317T (p.Asn317Thr) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The record also includes published literature and structural context.
N317T (p.Asn317Thr) variant details
- p.Asn317Thr
- rs2524989927
- ClinGen CA339956442
- ClinVar RCV002634288
- UniProt VAR 065218
- Likely pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- ClinVar: Likely pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. (PMID 21204808)
- Cited in: GLUT-1 deficiency without epilepsy--an exceptional case. (PMID 14605501)