NM_006516.4(SLC2A1):c.969G>A (p.Val323=) AND GLUT1 deficiency syndrome 1, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003632187.2
Allele description [Variation Report for NM_006516.4(SLC2A1):c.969G>A (p.Val323=)]
NM_006516.4(SLC2A1):c.969G>A (p.Val323=)
Condition(s)
- Name:
- GLUT1 deficiency syndrome 1, autosomal recessive
- Identifiers:
- MedGen: C3149117
-
embryo defective 2735 [Arabidopsis thaliana]
embryo defective 2735 [Arabidopsis thaliana]gi|15239965|ref|NP_196242.1|Protein
-
Pinochia corymbosa (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024