NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) AND Movement disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003612.4
Allele description [Variation Report for NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)]
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)
Condition(s)
- Name:
- Movement disorder
- Synonyms:
- Abnormality of movement
- Identifiers:
- MONDO: MONDO:0005395; MedGen: C0026650; Human Phenotype Ontology: HP:0100022
-
WP_002219011 (0)
Taxonomy
-
XP_010837733 (0)
ClinVar
-
AAA40863 (0)
NLM Catalog
-
WP_011011139 (0)
PopSet
-
AEO41147 (0)
Taxonomy
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Last Updated: Sep 29, 2024