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Variant : CV631601 (NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys)) Homo sapiens

Symbol: CV631601
Name: NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys)
Condition: Primary ciliary dyskinesia [RCV000800213]
Clinical Significance: uncertain significance
Last Evaluated: 11/02/2018
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.235G>A
NM_015896.4:c.235G>A
NG_023270.1:g.2120G>A
NG_042828.1:g.6930G>A
NC_000003.12:g.50343817C>T
NC_000003.11:g.50381248C>T
NM_015896.2:c.235G>A
NP_001295308.1:p.Glu79Lys
NP_056980.2:p.Glu79Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,817 - 50,343,817CLINVAR
GRCh37350,381,248 - 50,381,248CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14728809
Created: 2019-09-06
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.