NM_006308.3(HSPB3):c.282G>A (p.Leu94=) AND Neuronopathy, distal hereditary motor, type 2C
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000608958.13
Allele description
NM_006308.3(HSPB3):c.282G>A (p.Leu94=)
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
-
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See more...Assertion and evidence details
Last Updated: May 7, 2024