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Variant : CV76931 (NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)) Homo sapiens

Symbol: CV76931
Name: NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)
Condition: Ciliary dyskinesia, primary, 22 [RCV000056264]|Kartagener syndrome [RCV000190919]|Primary ciliary dyskinesia [RCV000459281]|not provided [RCV001090588]
Clinical Significance: pathogenic
Last Evaluated: 11/16/2018
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: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NC_000003.12:g.50345533A>C
NC_000003.11:g.50382964A>C
NM_015896.2:c.47T>G
NG_042828.1:g.5214T>G
O75800:p.Val16Gly
NM_001308379.2:c.47T>G
NM_015896.4:c.47T>G
NG_023270.1:g.404T>G
NP_001295308.1:p.Val16Gly
NP_056980.2:p.Val16Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,345,533 - 50,345,533CLINVAR
GRCh37350,382,964 - 50,382,964CLINVAR
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: 8621895
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.