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Variant : CV686440 (NM_015896.4(ZMYND10):c.480G>A (p.Gly160=)) Homo sapiens

Symbol: CV686440
Name: NM_015896.4(ZMYND10):c.480G>A (p.Gly160=)
Condition: Primary ciliary dyskinesia [RCV000865609]
Clinical Significance: benign
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_015896.2:c.480G>A
NP_056980.2:p.Gly160=
NM_001308379.2:c.480G>A
NM_015896.4:c.480G>A
NG_023270.1:g.2600G>A
NC_000003.12:g.50343337C>T
NC_000003.11:g.50380768C>T
NG_042828.1:g.7410G>A
NP_001295308.1:p.Gly160=
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,337 - 50,343,337CLINVAR
GRCh37350,380,768 - 50,380,768CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15142765
Created: 2020-01-07
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.