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

Variant : CV559586 (NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)) Homo sapiens

Symbol: CV559586
Name: NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)
Condition: Primary ciliary dyskinesia [RCV000696413]
Clinical Significance: uncertain significance
Last Evaluated: 02/15/2018
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.1156C>T
NM_015896.4:c.1171C>T
NG_042828.1:g.9097C>T
NC_000003.12:g.50341650G>A
NC_000003.11:g.50379081G>A
NM_015896.2:c.1171C>T
NP_056980.2:p.Arg391Trp
NG_023270.1:g.4287C>T
NP_001295308.1:p.Arg386Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,341,650 - 50,341,650CLINVAR
GRCh37350,379,081 - 50,379,081CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13821810
Created: 2018-11-06
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.