NM_001369.3(DNAH5):c.6366T>C (p.Cys2122=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000983431.10
Allele description [Variation Report for NM_001369.3(DNAH5):c.6366T>C (p.Cys2122=)]
NM_001369.3(DNAH5):c.6366T>C (p.Cys2122=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Homo sapiens glucosidase, beta, acid 3 (cytosolic), mRNA (cDNA clone MGC:126878 ...
Homo sapiens glucosidase, beta, acid 3 (cytosolic), mRNA (cDNA clone MGC:126878 IMAGE:8069335), complete cdsgi|75517944|gb|BC101829.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024