NM_001003800.2(BICD2):c.1947G>A (p.Thr649=) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000651519.9
Allele description [Variation Report for NM_001003800.2(BICD2):c.1947G>A (p.Thr649=)]
NM_001003800.2(BICD2):c.1947G>A (p.Thr649=)
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
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ribulose 1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose 1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Parablechnum schiedeanum]gi|1356686766|gb|AVL28613.1|Protein
-
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Piper schiedeanum]gi|2416168608|gb|WAX01028.1|Protein
-
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Parablechnum schiedeanum]gi|2171549935|gb|UHU33773.1|Protein
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Last Updated: Sep 29, 2024