NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000552733.7
Allele description [Variation Report for NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg)]
NM_001003800.2(BICD2):c.1687G>A (p.Gly563Arg)
Condition(s)
- Name:
- Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures (SMALED2A)
- Synonyms:
- SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
- Identifiers:
- MONDO: MONDO:0014121; MedGen: C4747715; Orphanet: 363447; Orphanet: 363454; OMIM: 615290
-
NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enriched library, ...
NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enriched library, clone:F630013B20 product:colony stimulating factor 1 (macrophage), full insert sequencegi|123787555|sp|Q3U4F9|Q3U4F9_MOUSEProtein
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Last Updated: Sep 29, 2024