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Variant : CV452538 (NM_015896.4(ZMYND10):c.1252_1253insA (p.Cys418Ter)) Homo sapiens

Symbol: CV452538
Name: NM_015896.4(ZMYND10):c.1252_1253insA (p.Cys418Ter)
Condition: Primary ciliary dyskinesia [RCV000534741]
Clinical Significance: uncertain significance
Last Evaluated: 06/15/2017
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: insertion (SO:0001587)
Source: CLINVAR
Molecular Consequence: frameshift variant|nonsense
Evidence: clinical testing
HGVS Name(s): NG_042828.1:g.9266_9267insA
NC_000003.12:g.50341480_50341481insT
NC_000003.11:g.50378911_50378912insT
NM_015896.2:c.1252_1253insA
NM_001308379.2:c.1237_1238insA
NM_015896.4:c.1252_1253insA
NG_023270.1:g.4456_4457insA
NP_001295308.1:p.Cys413Ter
NP_056980.2:p.Cys418Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,341,480 - 50,341,481CLINVAR
GRCh37350,378,911 - 50,378,912CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13492178
Created: 2018-01-09
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.