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Variant : CV470572 (NC_000021.8:g.(?_43892908)_(45629566_?)dup) Homo sapiens

Symbol: CV470572
Name: NC_000021.8:g.(?_43892908)_(45629566_?)dup
Condition: Primary ciliary dyskinesia [RCV000552378]
Clinical Significance: uncertain significance
Last Evaluated: 11/05/2018
Review Status: criteria provided, single submitter
Related Genes: AGPAT3   CBS   CRYAA   CSTB   GATD3A   HSF2BP   NDUFV3   PDE9A   PDXK   PKNOX1   PWP2   RRP1   RRP1B   RSPH1   SIK1   SLC37A1   TRAPPC10   U2AF1   WDR4  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000021.8:g.(?_43892908)_(45629566_?)dup
Human AssemblyChrPosition (strand)Source
GRCh372143,892,908 - 45,629,566CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13483609
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.