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Variant : CV943631 (NM_015896.4(ZMYND10):c.1238A>G (p.Tyr413Cys)) Homo sapiens

Symbol: CV943631
Name: NM_015896.4(ZMYND10):c.1238A>G (p.Tyr413Cys)
Condition: Primary ciliary dyskinesia [RCV001232893]
Clinical Significance: uncertain significance
Last Evaluated: 09/27/2019
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.1223A>G
NM_015896.4:c.1238A>G
NG_023270.1:g.4354A>G
NG_042828.1:g.9164A>G
NC_000003.12:g.50341583T>C
NC_000003.11:g.50379014T>C
NM_015896.2:c.1238A>G
NP_001295308.1:p.Tyr408Cys
NP_056980.2:p.Tyr413Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,341,583 - 50,341,583CLINVAR
GRCh37350,379,014 - 50,379,014CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 38476028
Created: 2020-08-11
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.