NM_004385.5(VCAN):c.6269A>G (p.Gln2090Arg) AND Wagner syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001157302.4
Allele description [Variation Report for NM_004385.5(VCAN):c.6269A>G (p.Gln2090Arg)]
NM_004385.5(VCAN):c.6269A>G (p.Gln2090Arg)
Condition(s)
- Name:
- Wagner syndrome (WGN1)
- Synonyms:
- Wagner disease; Wagner vitreoretinal degeneration; Wagner syndrome type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007740; MedGen: C1840452; Orphanet: 898; OMIM: 143200; Human Phenotype Ontology: HP:0030673
Assertion and evidence details
Last Updated: May 1, 2024