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Variant : CV563123 (NM_015896.4(ZMYND10):c.611G>A (p.Ser204Asn)) Homo sapiens

Symbol: CV563123
Name: NM_015896.4(ZMYND10):c.611G>A (p.Ser204Asn)
Condition: Primary ciliary dyskinesia [RCV000699787]
Clinical Significance: uncertain significance
Last Evaluated: 03/16/2018
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_042828.1:g.7740G>A
NP_056980.2:p.Ser204Asn
NC_000003.12:g.50343007C>T
NC_000003.11:g.50380438C>T
NM_015896.2:c.611G>A
NM_001308379.2:c.599+111G>A
NM_015896.4:c.611G>A
NG_023270.1:g.2930G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,007 - 50,343,007CLINVAR
GRCh37350,380,438 - 50,380,438CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13804806
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-10-06
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.