NM_021625.5(TRPV4):c.*423G>A AND Scapuloperoneal spinal muscular atrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000339010.6
Allele description [Variation Report for NM_021625.5(TRPV4):c.*423G>A]
NM_021625.5(TRPV4):c.*423G>A
Condition(s)
- Name:
- Scapuloperoneal spinal muscular atrophy (SPSMA)
- Synonyms:
- Amyotrophy, neurogenic scapuloperoneal, New England type; Scapuloperoneal Form of Spinal Muscular Atrophy; Scapuloperoneal spinal muscular atrophy, autosomal dominant
- Identifiers:
- MONDO: MONDO:0008408; MedGen: C0751335; Orphanet: 431255; OMIM: 181405
Assertion and evidence details
Last Updated: Oct 8, 2024