NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000204466.3
Allele description
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)
Condition(s)
- Name:
- Joubert syndrome (JBTS)
- Synonyms:
- CEREBELLOPARENCHYMAL DISORDER IV; Familial aplasia of the vermis; Agenesis of cerebellar vermis; See all synonyms [MedGen]
- Identifiers:
- MedGen: C0431399; Orphanet: 475; OMIM: PS213300; Human Phenotype Ontology: HP:0002335
Assertion and evidence details
Last Updated: Nov 2, 2019