NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=) AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002062513.6
Allele description [Variation Report for NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)]
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
Assertion and evidence details
Last Updated: Sep 29, 2024