NM_006516.4(SLC2A1):c.754A>G (p.Met252Val) AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002607737.3
Allele description [Variation Report for NM_006516.4(SLC2A1):c.754A>G (p.Met252Val)]
NM_006516.4(SLC2A1):c.754A>G (p.Met252Val)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
-
Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]
Putative NADP-dependent oxidoreductase yfmJ [Bacillus subtilis PY79]gi|558567297|gnl|LASimm|U712_03775| A76703.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024