NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del) AND Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003740866.2
Allele description [Variation Report for NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del)]
NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del)
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
-
C-terminal-binding protein 2 isoform X1 [Dermochelys coriacea]
C-terminal-binding protein 2 isoform X1 [Dermochelys coriacea]gi|1950473180|ref|XP_038269836.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024