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Variant : CV239248 (NM_015896.4(ZMYND10):c.575G>A (p.Arg192His)) Homo sapiens

Symbol: CV239248
Name: NM_015896.4(ZMYND10):c.575G>A (p.Arg192His)
Condition: Primary ciliary dyskinesia [RCV000232805]
Clinical Significance: uncertain significance
Last Evaluated: 12/01/2015
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): NG_042828.1:g.7605G>A
NC_000003.12:g.50343142C>T
NC_000003.11:g.50380573C>T
NM_015896.2:c.575G>A
NP_056980.2:p.Arg192His
NM_001308379.2:c.575G>A
NM_015896.4:c.575G>A
NG_023270.1:g.2795G>A
NP_001295308.1:p.Arg192His
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,142 - 50,343,142CLINVAR
GRCh37350,380,573 - 50,380,573CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11347638
Created: 2016-07-12
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.