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Variant : CV559060 (NM_015896.4(ZMYND10):c.1118G>A (p.Arg373Gln)) Homo sapiens

Symbol: CV559060
Name: NM_015896.4(ZMYND10):c.1118G>A (p.Arg373Gln)
Condition: Primary ciliary dyskinesia [RCV000699716]
Clinical Significance: uncertain significance
Last Evaluated: 11/21/2018
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.50341813C>T
NC_000003.11:g.50379244C>T
NP_056980.2:p.Arg373Gln
NG_042828.1:g.8934G>A
NM_015896.2:c.1118G>A
NM_001308379.2:c.1103G>A
NM_015896.4:c.1118G>A
NG_023270.1:g.4124G>A
NP_001295308.1:p.Arg368Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,341,813 - 50,341,813CLINVAR
GRCh37350,379,244 - 50,379,244CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13804719
Created: 2018-11-06
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.