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Variant : CV239244 (NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)) Homo sapiens

Symbol: CV239244
Name: NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)
Condition: Primary ciliary dyskinesia [RCV000226631]
Clinical Significance: benign|likely benign
Last Evaluated: 03/01/2019
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.1004G>A
NG_042828.1:g.8835G>A
NC_000003.12:g.50341912C>T
NC_000003.11:g.50379343C>T
NM_015896.2:c.1019G>A
NP_056980.2:p.Arg340Gln
NM_015896.4:c.1019G>A
NG_023270.1:g.4025G>A
NP_001295308.1:p.Arg335Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,341,912 - 50,341,912CLINVAR
GRCh37350,379,343 - 50,379,343CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11345885
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.