NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000811828.7
Allele description [Variation Report for NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser)]
NM_001003800.2(BICD2):c.1540G>A (p.Gly514Ser)
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
-
At.48833 AND (alive[prop]) (2)
Gene
-
Homo sapiens olfactory receptor family 5 subfamily BD member 1 pseudogene (OR5BD...
Homo sapiens olfactory receptor family 5 subfamily BD member 1 pseudogene (OR5BD1P) on chromosome 11gi|149842470|ref|NG_002253.2|Nucleotide
-
Homo sapiens cullin associated and neddylation dissociated 2 (putative) (CAND2),...
Homo sapiens cullin associated and neddylation dissociated 2 (putative) (CAND2), transcript variant 2, mRNAgi|1675176173|ref|NM_012298.3|Nucleotide
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LOC127821066 [Homo sapiens]
LOC127821066 [Homo sapiens]Gene ID:127821066Gene
-
Societies, Medical
Societies, MedicalSocieties whose membership is limited to physicians.<br/>MeSH
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Last Updated: Aug 4, 2024