NM_001369.3(DNAH5):c.4530del (p.Asn1511fs) AND Kartagener syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000578159.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)]
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)
Condition(s)
- Name:
- Kartagener syndrome (CILD1)
- Synonyms:
- CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; IMMOTILE CILIA SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009484; MedGen: C4551906; Orphanet: 244; OMIM: 244400
-
COQ8A coenzyme Q8A [Homo sapiens]
COQ8A coenzyme Q8A [Homo sapiens]Gene ID:56997Gene
-
Gene Links for GEO Profiles (Select 55752122) (1)
Gene
-
MROH6 maestro heat like repeat family member 6 [Homo sapiens]
MROH6 maestro heat like repeat family member 6 [Homo sapiens]Gene ID:642475Gene
-
Gene Links for GEO Profiles (Select 55757227) (1)
Gene
-
Staphylococcal superantigen toxins effect on peripheral blood mononuclear cells
Staphylococcal superantigen toxins effect on peripheral blood mononuclear cellsAccession: GDS3399GEO DataSets
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Last Updated: Sep 29, 2024