NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup) AND Tip-toe gait
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001823088.1
Allele description [Variation Report for NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)]
NM_130837.3(OPA1):c.113_130dup (p.Arg38_Ser43dup)
Condition(s)
- Name:
- Tip-toe gait
- Synonyms:
- Toe walking
- Identifiers:
- MedGen: C0427144; Human Phenotype Ontology: HP:0030051
Assertion and evidence details
Last Updated: Feb 7, 2023