NM_006516.4(SLC2A1):c.972+7del AND Dystonic disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000284359.6
Allele description [Variation Report for NM_006516.4(SLC2A1):c.972+7del]
NM_006516.4(SLC2A1):c.972+7del
Condition(s)
- Name:
- Dystonic disorder
- Synonyms:
- Dystonia
- Identifiers:
- MONDO: MONDO:0003441; MedGen: C0013421; Human Phenotype Ontology: HP:0001332
Assertion and evidence details
Last Updated: Jan 19, 2025