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Variant : CV76936 (NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)) Homo sapiens

Symbol: CV76936
Name: NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)
Condition: Ciliary dyskinesia, primary, 22 [RCV000056269]|Kartagener syndrome [RCV000190920]|Primary ciliary dyskinesia [RCV000468778]
Clinical Significance: pathogenic|likely pathogenic|uncertain significance
Last Evaluated: 11/14/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NM_015896.2:c.797T>C
NC_000003.12:g.50342473A>G
NC_000003.11:g.50379904A>G
NP_056980.2:p.Leu266Pro
NP_056980.2:p.Leu66Pro
NG_042828.1:g.8274T>C
O75800:p.Leu266Pro
NM_001308379.2:c.782T>C
NM_015896.4:c.797T>C
NG_023270.1:g.3464T>C
NP_001295308.1:p.Leu261Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,342,473 - 50,342,473CLINVAR
GRCh37350,379,904 - 50,379,904CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS; Dextrocardia bronchiectasis and sinusitis; IMMOTILE CILIA SYNDROME; POLYNESIAN BRONCHIECTASIS; Siewert syndrome
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000|1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621900
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-10-15
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.