NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001917218.6
Allele description [Variation Report for NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu)]
NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu)
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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Timoniella imbutiforme isolate YK180 large subunit ribosomal RNA gene, partial s...
Timoniella imbutiforme isolate YK180 large subunit ribosomal RNA gene, partial sequencegi|1216632242|gb|MF491861.1|Nucleotide
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mgat4a [Poecilia reticulata]
mgat4a [Poecilia reticulata]Gene ID:103479891Gene
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Last Updated: Sep 29, 2024