NM_006516.4(SLC2A1):c.471C>T (p.Gly157=) AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002628477.3
Allele description [Variation Report for NM_006516.4(SLC2A1):c.471C>T (p.Gly157=)]
NM_006516.4(SLC2A1):c.471C>T (p.Gly157=)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
-
thioesterase family protein [Pseudomonas khazarica]
thioesterase family protein [Pseudomonas khazarica]gi|2024875978|gnl|PRJNA692848|JLK41 0|gb|QTS87037.1|Protein
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Last Updated: Sep 29, 2024