NM_001369.3(DNAH5):c.8176A>G (p.Ile2726Val) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003872395.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.8176A>G (p.Ile2726Val)]
NM_001369.3(DNAH5):c.8176A>G (p.Ile2726Val)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
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PREDICTED: Homo sapiens centlein (CNTLN), transcript variant X11, mRNA
PREDICTED: Homo sapiens centlein (CNTLN), transcript variant X11, mRNAgi|2462625072|ref|XM_054363143.1|Nucleotide
-
PREDICTED: Homo sapiens centlein (CNTLN), transcript variant X7, mRNA
PREDICTED: Homo sapiens centlein (CNTLN), transcript variant X7, mRNAgi|2462625064|ref|XM_054363139.1|Nucleotide
-
PREDICTED: Cavia porcellus SVOP like (Svopl), transcript variant X3, mRNA
PREDICTED: Cavia porcellus SVOP like (Svopl), transcript variant X3, mRNAgi|2687665513|ref|XM_063250563.1|Nucleotide
-
Hypothetical protein MexAM1_META2p1366 (plasmid) [Methylorubrum extorquens AM1]
Hypothetical protein MexAM1_META2p1366 (plasmid) [Methylorubrum extorquens AM1]gi|240012879|gnl|UWGC|META2_1366|gb 4104.1|Protein
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Last Updated: Sep 29, 2024