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Variant : CV563115 (NM_015896.4(ZMYND10):c.700+1G>A) Homo sapiens

Symbol: CV563115
Name: NM_015896.4(ZMYND10):c.700+1G>A
Condition: Primary ciliary dyskinesia [RCV000701037]
Clinical Significance: likely pathogenic
Last Evaluated: 12/20/2017
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_042828.1:g.7830G>A
NC_000003.12:g.50342917C>T
NC_000003.11:g.50380348C>T
NM_015896.2:c.700+1G>A
NM_001308379.2:c.599+201G>A
NM_015896.4:c.700+1G>A
NG_023270.1:g.3020G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,342,917 - 50,342,917CLINVAR
GRCh37350,380,348 - 50,380,348CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13807319
Created: 2018-11-06
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.