NM_006516.4(SLC2A1):c.27G>T (p.Thr9=) AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003632865.1
Allele description
NM_006516.4(SLC2A1):c.27G>T (p.Thr9=)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
Assertion and evidence details
Last Updated: Feb 28, 2024