Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV932025 (NM_015896.4(ZMYND10):c.155T>G (p.Val52Gly)) Homo sapiens

Symbol: CV932025
Name: NM_015896.4(ZMYND10):c.155T>G (p.Val52Gly)
Condition: Primary ciliary dyskinesia [RCV001209003]
Clinical Significance: uncertain significance
Last Evaluated: 05/20/2019
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.155T>G
NM_015896.4:c.155T>G
NG_042828.1:g.5577T>G
NG_023270.1:g.767T>G
NC_000003.12:g.50345170A>C
NC_000003.11:g.50382601A>C
NM_015896.2:c.155T>G
NP_001295308.1:p.Val52Gly
NP_056980.2:p.Val52Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,345,170 - 50,345,170CLINVAR
GRCh37350,382,601 - 50,382,601CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 38486689
Created: 2020-08-11
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.