NM_003334.4(UBA1):c.94G>A (p.Glu32Lys) AND Infantile-onset X-linked spinal muscular atrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001514718.6
Allele description [Variation Report for NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)]
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys)
Condition(s)
- Name:
- Infantile-onset X-linked spinal muscular atrophy
- Synonyms:
- ARTHROGRYPOSIS, X-LINKED, TYPE I; SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE; Arthrogryposis multiplex congenita, distal, X-linked; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010532; MedGen: C1844934; Orphanet: 1145; OMIM: 301830
-
Pathogen: environmental/food/other sample from Listeria monocytogenes
Pathogen: environmental/food/other sample from Listeria monocytogenesbiosample
-
BioSample links for Nucleotide (Select 2211912715) (1)
BioSample
-
amyloid-beta A4 precursor protein-binding family A member 2 isoform X3 [Homo sap...
amyloid-beta A4 precursor protein-binding family A member 2 isoform X3 [Homo sapiens]gi|2462543777|ref|XP_054233762.1|Protein
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Last Updated: Feb 20, 2024