NM_001369.3(DNAH5):c.5878G>T (p.Asp1960Tyr) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002004251.7
Allele description [Variation Report for NM_001369.3(DNAH5):c.5878G>T (p.Asp1960Tyr)]
NM_001369.3(DNAH5):c.5878G>T (p.Asp1960Tyr)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Rattus norvegicus G protein pathway suppressor 1 (Gps1), transcript variant 1, m...
Rattus norvegicus G protein pathway suppressor 1 (Gps1), transcript variant 1, mRNAgi|400153470|ref|NM_053969.3|Nucleotide
-
Homo sapiens KIAA1522, mRNA (cDNA clone IMAGE:3848662)
Homo sapiens KIAA1522, mRNA (cDNA clone IMAGE:3848662)gi|17946820|gb|BC020306.1|Nucleotide
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Last Updated: Sep 29, 2024