NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser) AND Primary ciliary dyskinesia 14
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001150116.5
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)
-
tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1 [Homo...
tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1 [Homo sapiens]gi|1007380392|ref|NP_001308084.1|Protein
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Last Updated: Sep 29, 2024