NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) AND GLUT1 deficiency syndrome 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000311944.2
Allele description
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1 (GLUT1DS1)
- Synonyms:
- De Vivo disease; GLUT1 DS; Glucose transport defect, blood-brain barrier; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011724; MedGen: C4551966; Orphanet: 71277; OMIM: 606777
Assertion and evidence details
Last Updated: Dec 12, 2021