NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln) AND Neuronopathy, distal hereditary motor, type 7B
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001174528.2
Allele description [Variation Report for NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln)]
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln)
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, type 7B
- Synonyms:
- HMN VIIB; LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 14; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011879; MedGen: C1843315; Orphanet: 139589; OMIM: 607641
Assertion and evidence details
Last Updated: Sep 29, 2024