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Variant : CV828360 (NM_015896.4(ZMYND10):c.477G>T (p.Glu159Asp)) Homo sapiens

Symbol: CV828360
Name: NM_015896.4(ZMYND10):c.477G>T (p.Glu159Asp)
Condition: Primary ciliary dyskinesia [RCV001056666]
Clinical Significance: uncertain significance
Last Evaluated: 04/16/2019
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.477G>T
NM_015896.4:c.477G>T
NG_023270.1:g.2597G>T
NG_042828.1:g.7407G>T
NC_000003.12:g.50343340C>A
NC_000003.11:g.50380771C>A
NM_015896.2:c.477G>T
NP_001295308.1:p.Glu159Asp
NP_056980.2:p.Glu159Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,340 - 50,343,340CLINVAR
GRCh37350,380,771 - 50,380,771CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26916937
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.