NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser) AND Primary ciliary dyskinesia
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000477045.14
Allele description [Variation Report for NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)]
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
tRNA (cytosine(38)-C(5))-methyltransferase isoform g [Homo sapiens]
tRNA (cytosine(38)-C(5))-methyltransferase isoform g [Homo sapiens]gi|1005261142|ref|NP_001307936.1|Protein
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Arabidopsis thaliana Receptor-like protein kinase-related family protein (AT1G63...
Arabidopsis thaliana Receptor-like protein kinase-related family protein (AT1G63580), mRNAgi|1063690922|ref|NM_105036.2|Nucleotide
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daa27h04.x1 NICHD_XGC_Lu1 Xenopus laevis cDNA clone IMAGE:4057590 3', mRNA seque...
daa27h04.x1 NICHD_XGC_Lu1 Xenopus laevis cDNA clone IMAGE:4057590 3', mRNA sequencegi|12747598|gnl|dbEST|7838320|gb|BG 2.1|Nucleotide
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Nucleic Acid Synthesis Inhibitors [Pharmacological Action]
Nucleic Acid Synthesis Inhibitors [Pharmacological Action]MeSH
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024