NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001878673.7
Allele description [Variation Report for NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)]
NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
602375 (1)
OMIM
-
Human DNA sequence from clone RP1-202O8 on chromosome 1p36.11-36.31, complete se...
Human DNA sequence from clone RP1-202O8 on chromosome 1p36.11-36.31, complete sequencegi|4914512|emb|AL031848.11|Nucleotide
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Last Updated: Sep 29, 2024