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Variant : CV686439 (NM_015896.4(ZMYND10):c.588C>T (p.Asp196=)) Homo sapiens

Symbol: CV686439
Name: NM_015896.4(ZMYND10):c.588C>T (p.Asp196=)
Condition: Primary ciliary dyskinesia [RCV000864670]
Clinical Significance: likely benign
Last Evaluated: 02/04/2019
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): NC_000003.11:g.50380560G>A
NM_015896.2:c.588C>T
NP_001295308.1:p.Asp196=
NM_015896.4:c.588C>T
NG_023270.1:g.2808C>T
NP_056980.2:p.Asp196=
NM_001308379.2:c.588C>T
NG_042828.1:g.7618C>T
NC_000003.12:g.50343129G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,129 - 50,343,129CLINVAR
GRCh37350,380,560 - 50,380,560CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15137435
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.