NM_001540.5(HSPB1):c.399C>T (p.Tyr133=) AND Neuronopathy, distal hereditary motor, type 2B
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001164523.4
Allele description [Variation Report for NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)]
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, type 2B
- Synonyms:
- HMN IIB; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012080; MedGen: C2608087; Orphanet: 139525; OMIM: 608634
Assertion and evidence details
Last Updated: Feb 28, 2024