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Variant : CV571454 (NC_000021.8:g.(?_43892908)_(44592410_?)dup) Homo sapiens

Symbol: CV571454
Name: NC_000021.8:g.(?_43892908)_(44592410_?)dup
Condition: Primary ciliary dyskinesia [RCV000708153]
Clinical Significance: uncertain significance
Last Evaluated: 06/27/2018
Review Status: criteria provided, single submitter
Related Genes: AP001625.3   CBS   CRYAA   ERVH48-1   FRGCA   LINC01668   LINC01671   MIR5692B   NDUFV3   PDE9A   PDE9A-AS1   PKNOX1   RSPH1   SLC37A1   U2AF1   WDR4  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000021.8:g.(?_43892908)_(44592410_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382142,472,798 - 43,172,300CLINVAR
GRCh372143,892,908 - 44,592,410CLINVAR
Cytogenetic Map2121q22.3CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13819184
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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