NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 22, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074967.1
Allele description
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
Condition(s)
- Name:
- Retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Assertion and evidence details
Last Updated: Apr 6, 2024