NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=) AND Scapuloperoneal spinal muscular atrophy
- Germline classification:
- Uncertain significance (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:
- RCV001113853.4
Allele description [Variation Report for NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)]
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
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
-
hypothetical protein LOC113444 [Homo sapiens]
hypothetical protein LOC113444 [Homo sapiens]gi|31377614|ref|NP_612437.2|Protein
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Last Updated: Sep 29, 2024