NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001850859.5
Allele description [Variation Report for NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr)]
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
LOC112290514 [Physcomitrium patens]
LOC112290514 [Physcomitrium patens]Gene ID:112290514Gene
-
glmS [Bartonella henselae]
glmS [Bartonella henselae]Gene ID:64157203Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024