NM_001003800.2(BICD2):c.1704_1721del (p.Gly570_Pro575del) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002979209.2
Allele description [Variation Report for NM_001003800.2(BICD2):c.1704_1721del (p.Gly570_Pro575del)]
NM_001003800.2(BICD2):c.1704_1721del (p.Gly570_Pro575del)
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
-
sodium channel protein type 1 subunit alpha isoform 2 [Homo sapiens]
sodium channel protein type 1 subunit alpha isoform 2 [Homo sapiens]gi|1227045131|ref|NP_001340881.1|Protein
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Last Updated: Feb 14, 2024