NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) AND Dandy-Walker syndrome
- 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:
- RCV001257948.1
Allele description [Variation Report for NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)]
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)
Condition(s)
- Name:
- Dandy-Walker syndrome (DWS)
- Synonyms:
- Dandy-Walker malformation
- Identifiers:
- MONDO: MONDO:0009072; MeSH: D003616; MedGen: C0010964; Orphanet: 217; OMIM: 220200; Human Phenotype Ontology: HP:0001305
Assertion and evidence details
Last Updated: Feb 14, 2024