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Variant : CV563134 (NM_015896.4(ZMYND10):c.318G>A (p.Val106=)) Homo sapiens

Symbol: CV563134
Name: NM_015896.4(ZMYND10):c.318G>A (p.Val106=)
Condition: Primary ciliary dyskinesia [RCV000686105]
Clinical Significance: uncertain significance
Last Evaluated: 03/05/2018
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.50343734C>T
NP_056980.2:p.Val106=
NG_042828.1:g.7013G>A
NC_000003.11:g.50381165C>T
NM_015896.2:c.318G>A
NM_001308379.2:c.318G>A
NM_015896.4:c.318G>A
NG_023270.1:g.2203G>A
NP_001295308.1:p.Val106=
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,734 - 50,343,734CLINVAR
GRCh37350,381,165 - 50,381,165CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13806171
Created: 2018-11-06
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.