NM_001003800.2(BICD2):c.1348C>T (p.Arg450Cys) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001520199.12
Allele description [Variation Report for NM_001003800.2(BICD2):c.1348C>T (p.Arg450Cys)]
NM_001003800.2(BICD2):c.1348C>T (p.Arg450Cys)
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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tegument protein VP11/12 [Felid alphaherpesvirus 1]
tegument protein VP11/12 [Felid alphaherpesvirus 1]gi|281190772|ref|YP_003331533.2|Protein
-
helicase-primase helicase subunit [Felid alphaherpesvirus 1]
helicase-primase helicase subunit [Felid alphaherpesvirus 1]gi|270339494|ref|YP_003331576.1|Protein
-
PREDICTED: Homo sapiens DNA replication and sister chromatid cohesion 1 (DSCC1),...
PREDICTED: Homo sapiens DNA replication and sister chromatid cohesion 1 (DSCC1), transcript variant X1, mRNAgi|2217373169|ref|XM_005251065.5|Nucleotide
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Last Updated: Sep 8, 2024