NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 5, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000414944.5
Allele description [Variation Report for NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)]
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
Condition(s)
- Name:
- Gait disturbance
- Synonyms:
- Abnormal gait
- Identifiers:
- MedGen: C0575081; Human Phenotype Ontology: HP:0001288
- Name:
- Spastic paraparesis
- Identifiers:
- MedGen: C0037771; Human Phenotype Ontology: HP:0002313
- Name:
- Difficulty walking
- Identifiers:
- MedGen: C0311394; Human Phenotype Ontology: HP:0002355
- Name:
- Generalized hyperreflexia
- Identifiers:
- MedGen: C4024949; Human Phenotype Ontology: HP:0007034
Assertion and evidence details
Last Updated: Sep 8, 2024