NM_000321.3(RB1):c.100G>T (p.Glu34Ter) AND Retinoblastoma
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001385813.6
Allele description [Variation Report for NM_000321.3(RB1):c.100G>T (p.Glu34Ter)]
NM_000321.3(RB1):c.100G>T (p.Glu34Ter)
Condition(s)
- Name:
- Retinoblastoma (RB1)
- Synonyms:
- Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
- Identifiers:
- MONDO: MONDO:0008380; MeSH: D012175; MedGen: C0035335; Orphanet: 790; OMIM: 180200; Human Phenotype Ontology: HP:0009919
Assertion and evidence details
Last Updated: Mar 5, 2024