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Variant : CV519684 (NM_015896.4(ZMYND10):c.999+7A>T) Homo sapiens

Symbol: CV519684
Name: NM_015896.4(ZMYND10):c.999+7A>T
Condition: Primary ciliary dyskinesia [RCV000629639]
Clinical Significance: likely benign
Last Evaluated: 03/04/2019
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): NG_042828.1:g.8739A>T
NM_015896.2:c.999+7A>T
NC_000003.11:g.50379439T>A
NC_000003.12:g.50342008T>A
NM_001308379.2:c.984+7A>T
NM_015896.4:c.999+7A>T
NG_023270.1:g.3929A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,342,008 - 50,342,008CLINVAR
GRCh37350,379,439 - 50,379,439CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13610298
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-10-15
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.