NM_021625.5(TRPV4):c.1491+10C>T AND Neuronopathy, distal hereditary motor, autosomal dominant 8
- 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:
- RCV000273307.5
Allele description [Variation Report for NM_021625.5(TRPV4):c.1491+10C>T]
NM_021625.5(TRPV4):c.1491+10C>T
Condition(s)
- Name:
- Neuronopathy, distal hereditary motor, autosomal dominant 8
- Synonyms:
- SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES; Distal spinal muscular atrophy, congenital nonprogressive; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010839; MedGen: C1838492; Orphanet: 1216; OMIM: 600175
Assertion and evidence details
Last Updated: Jun 2, 2024