NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu) AND Neuronopathy, distal hereditary motor, type 2C
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000784978.3
Allele description [Variation Report for NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu)]
NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu)
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, type 2C
- Synonyms:
- HMN IIC; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIC; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013243; MedGen: C3150619; Orphanet: 139525; OMIM: 613376
Assertion and evidence details
Last Updated: Oct 21, 2023