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NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter) AND Kartagener syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000190932.10

Allele description [Variation Report for NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)]

NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)

Gene:
ODAD3:outer dynein arm docking complex subunit 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)
HGVS:
  • NC_000019.10:g.11426182C>A
  • NG_041777.1:g.14601G>T
  • NM_001302453.1:c.763G>T
  • NM_001302454.2:c.745G>T
  • NM_145045.5:c.925G>TMANE SELECT
  • NP_001289382.1:p.Glu255Ter
  • NP_001289383.1:p.Glu249Ter
  • NP_659482.3:p.Glu309Ter
  • NC_000019.9:g.11537002C>A
  • NM_145045.4:c.925G>T
Protein change:
E249*; GLU309TER
Links:
OMIM: 615956.0001; dbSNP: rs587777779
NCBI 1000 Genomes Browser:
rs587777779
Molecular consequence:
  • NM_001302453.1:c.763G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001302454.2:c.745G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_145045.5:c.925G>T - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000245818GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.

Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN.

Hum Mutat. 2014 Dec;35(12):1446-8. doi: 10.1002/humu.22698.

PubMed [citation]
PMID:
25224326
PMCID:
PMC4489323

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, et al.

Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005.

PubMed [citation]
PMID:
25192045
PMCID:
PMC4157146

Details of each submission

From GeneReviews, SCV000245818.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024