NM_012144.4(DNAI1):c.1890C>T (p.Asn630=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002205041.6
Allele description [Variation Report for NM_012144.4(DNAI1):c.1890C>T (p.Asn630=)]
NM_012144.4(DNAI1):c.1890C>T (p.Asn630=)
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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Synthetic construct Mus musculus clone IMAGE:100061849, MGC:190302 RIKEN cDNA 46...
Synthetic construct Mus musculus clone IMAGE:100061849, MGC:190302 RIKEN cDNA 4631416L12 gene (4631416L12Rik) mRNA, encodes complete proteingi|162318537|gb|BC156338.1|Nucleotide
-
Homo sapiens sorting nexin 5, mRNA (cDNA clone MGC:121015 IMAGE:7939825), comple...
Homo sapiens sorting nexin 5, mRNA (cDNA clone MGC:121015 IMAGE:7939825), complete cdsgi|62739846|gb|BC093980.1|Nucleotide
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Last Updated: Sep 16, 2024