NM_207346.3(TSEN54):c.575_576del (p.His192fs) AND Olivopontocerebellar hypoplasia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 7, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000147787.6
Allele description [Variation Report for NM_207346.3(TSEN54):c.575_576del (p.His192fs)]
NM_207346.3(TSEN54):c.575_576del (p.His192fs)
Condition(s)
- Name:
- Olivopontocerebellar hypoplasia
- Identifiers:
- MedGen: C1859341; Human Phenotype Ontology: HP:0006955
Assertion and evidence details
Last Updated: Apr 9, 2023