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Variant : CV828361 (NM_015896.4(ZMYND10):c.159C>A (p.Ser53Arg)) Homo sapiens

Symbol: CV828361
Name: NM_015896.4(ZMYND10):c.159C>A (p.Ser53Arg)
Condition: Primary ciliary dyskinesia [RCV001037918]
Clinical Significance: uncertain significance
Last Evaluated: 02/05/2019
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): NM_001308379.2:c.159C>A
NM_015896.4:c.159C>A
NG_042828.1:g.5581C>A
NG_023270.1:g.771C>A
NC_000003.12:g.50345166G>T
NC_000003.11:g.50382597G>T
NM_015896.2:c.159C>A
NP_001295308.1:p.Ser53Arg
NP_056980.2:p.Ser53Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,345,166 - 50,345,166CLINVAR
GRCh37350,382,597 - 50,382,597CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26907338
Created: 2020-05-12
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.