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Variant : CV393852 (NM_015896.4(ZMYND10):c.85T>C (p.Ser29Pro)) Homo sapiens

Symbol: CV393852
Name: NM_015896.4(ZMYND10):c.85T>C (p.Ser29Pro)
Condition: Primary ciliary dyskinesia [RCV000474323]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 10/11/2018
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): NG_042828.1:g.5252T>C
NC_000003.12:g.50345495A>G
NC_000003.11:g.50382926A>G
NM_015896.2:c.85T>C
NP_056980.2:p.Ser29Pro
NM_001308379.2:c.85T>C
NM_015896.4:c.85T>C
NG_023270.1:g.442T>C
NP_001295308.1:p.Ser29Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,345,495 - 50,345,495CLINVAR
GRCh37350,382,926 - 50,382,926CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12890274
Created: 2017-05-09
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.