NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) AND Uveal melanoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 14, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000436244.1
Allele description [Variation Report for NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)]
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)
Condition(s)
- Name:
- Uveal melanoma
- Synonyms:
- Intraocular melanoma; Melanoma of the Uvea
- Identifiers:
- MONDO: MONDO:0006486; MeSH: C536494; MedGen: C0220633; Orphanet: 39044; OMIM: 155720; Human Phenotype Ontology: HP:0007716
Assertion and evidence details
Last Updated: Jun 17, 2024