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

Variant : CV828359 (NM_015896.4(ZMYND10):c.722G>A (p.Gly241Asp)) Homo sapiens

Symbol: CV828359
Name: NM_015896.4(ZMYND10):c.722G>A (p.Gly241Asp)
Condition: Primary ciliary dyskinesia [RCV001065009]
Clinical Significance: uncertain significance
Last Evaluated: 12/13/2019
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): NP_001295308.1:p.Gly236Asp
NM_001308379.2:c.707G>A
NM_015896.4:c.722G>A
NG_023270.1:g.3389G>A
NG_042828.1:g.8199G>A
NC_000003.12:g.50342548C>T
NC_000003.11:g.50379979C>T
NP_056980.2:p.Gly241Asp
NM_015896.2:c.722G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,342,548 - 50,342,548CLINVAR
GRCh37350,379,979 - 50,379,979CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26884685
Created: 2020-05-12
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.