NM_006516.4(SLC2A1):c.452C>A (p.Ala151Asp) AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003876967.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.452C>A (p.Ala151Asp)]
NM_006516.4(SLC2A1):c.452C>A (p.Ala151Asp)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
Assertion and evidence details
Last Updated: Mar 5, 2024