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Variant : CV519635 (NM_015896.4(ZMYND10):c.564C>G (p.Leu188=)) Homo sapiens

Symbol: CV519635
Name: NM_015896.4(ZMYND10):c.564C>G (p.Leu188=)
Condition: Primary ciliary dyskinesia [RCV000629538]
Clinical Significance: likely benign
Last Evaluated: 12/12/2018
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): NG_042828.1:g.7594C>G
NC_000003.12:g.50343153G>C
NC_000003.11:g.50380584G>C
NM_015896.2:c.564C>G
NP_056980.2:p.Leu188=
NM_001308379.2:c.564C>G
NM_015896.4:c.564C>G
NG_023270.1:g.2784C>G
NP_001295308.1:p.Leu188=
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,153 - 50,343,153CLINVAR
GRCh37350,380,584 - 50,380,584CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13610091
Created: 2018-06-12
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.