NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) AND Joubert syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000381777.1
Allele description
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=)
Condition(s)
- Name:
- Joubert syndrome (JBTS)
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Cerebelloparenchymal disorder 4; Cerebellar vermis agenesis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300; Human Phenotype Ontology: HP:0002335
Assertion and evidence details
Last Updated: May 4, 2020