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Variant : CV239249 (NM_015896.4(ZMYND10):c.478G>A (p.Gly160Arg)) Homo sapiens

Symbol: CV239249
Name: NM_015896.4(ZMYND10):c.478G>A (p.Gly160Arg)
Condition: Primary ciliary dyskinesia [RCV000229875]
Clinical Significance: benign
Last Evaluated: 12/24/2018
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): NG_042828.1:g.7408G>A
NC_000003.12:g.50343339C>T
NC_000003.11:g.50380770C>T
NM_015896.2:c.478G>A
NP_056980.2:p.Gly160Arg
NM_001308379.2:c.478G>A
NM_015896.4:c.478G>A
NG_023270.1:g.2598G>A
NP_001295308.1:p.Gly160Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,339 - 50,343,339CLINVAR
GRCh37350,380,770 - 50,380,770CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11349270
Created: 2016-07-12
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.