NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu) AND Vitreoretinopathy
- Germline classification:
- 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:
- RCV000319988.5
Allele description [Variation Report for NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu)]
NM_004385.5(VCAN):c.7489A>G (p.Lys2497Glu)
Condition(s)
- Name:
- Vitreoretinopathy
- Synonyms:
- Vitreoretinal degeneration
- Identifiers:
- MONDO: MONDO:0020248; MedGen: C0344290; Human Phenotype Ontology: HP:0007773
Assertion and evidence details
Last Updated: May 26, 2024