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Variant : CV960521 (NM_015896.4(ZMYND10):c.319-3C>T) Homo sapiens

Symbol: CV960521
Name: NM_015896.4(ZMYND10):c.319-3C>T
Condition: Primary ciliary dyskinesia [RCV001248565]
Clinical Significance: uncertain significance
Last Evaluated: 10/10/2019
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.50343619G>A
NC_000003.11:g.50381050G>A
NM_001308379.2:c.319-3C>T
NM_015896.4:c.319-3C>T
NG_023270.1:g.2318C>T
NG_042828.1:g.7128C>T
NM_015896.2:c.319-3C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,619 - 50,343,619CLINVAR
GRCh37350,381,050 - 50,381,050CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 38471069
Created: 2020-08-11
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE



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