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Variant : CV239246 (NM_015896.4(ZMYND10):c.794C>T (p.Ala265Val)) Homo sapiens

Symbol: CV239246
Name: NM_015896.4(ZMYND10):c.794C>T (p.Ala265Val)
Condition: Primary ciliary dyskinesia [RCV000230325]
Clinical Significance: uncertain significance
Last Evaluated: 08/14/2017
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.8271C>T
NC_000003.12:g.50342476G>A
NC_000003.11:g.50379907G>A
NM_015896.2:c.794C>T
NP_056980.2:p.Ala265Val
NM_001308379.2:c.779C>T
NM_015896.4:c.794C>T
NG_023270.1:g.3461C>T
NP_001295308.1:p.Ala260Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,342,476 - 50,342,476CLINVAR
GRCh37350,379,907 - 50,379,907CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11349393
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-10-20
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.