NM_138638.5(CFL2):c.*2233del AND Nemaline Myopathy, Recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000311189.5
Allele description [Variation Report for NM_138638.5(CFL2):c.*2233del]
NM_138638.5(CFL2):c.*2233del
Condition(s)
- Name:
- Nemaline Myopathy, Recessive
- Identifiers:
- MedGen: CN239479
-
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Chain K, Proteasome subunit beta type-8,Proteasome subunit beta type-5
Chain K, Proteasome subunit beta type-8,Proteasome subunit beta type-5gi|1101273846|pdb|5L5B|KProtein
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hypothetical protein [Moraxella phage Mcat1]
hypothetical protein [Moraxella phage Mcat1]gi|823079620|gb|AKI27014.1|Protein
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Flank Pain
Flank PainPain emanating from below the RIBS and above the ILIUM.<br/>Year introduced: 2001MeSH
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023