NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) AND Encephalopathy due to GLUT1 deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001101941.4
Allele description [Variation Report for NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)]
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
Condition(s)
- Name:
- Encephalopathy due to GLUT1 deficiency
- Synonyms:
- GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER; De Vivo disease; Glucose transporter protein syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011724; MedGen: C4551966; Orphanet: 71277; OMIM: 606777
Assertion and evidence details
Last Updated: Jan 19, 2025