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Variant : CV651211 (NM_015896.4(ZMYND10):c.510+1G>A) Homo sapiens

Symbol: CV651211
Name: NM_015896.4(ZMYND10):c.510+1G>A
Condition: Primary ciliary dyskinesia [RCV000799364]
Clinical Significance: pathogenic
Last Evaluated: 12/07/2018
Review Status: criteria provided, single submitter
Related Genes: ZMYND10  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): NM_001308379.2:c.510+1G>A
NM_015896.4:c.510+1G>A
NG_023270.1:g.2631G>A
NG_042828.1:g.7441G>A
NC_000003.12:g.50343306C>T
NC_000003.11:g.50380737C>T
NM_015896.2:c.510+1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38350,343,306 - 50,343,306CLINVAR
GRCh37350,380,737 - 50,380,737CLINVAR
Cytogenetic Map33p21.31CLINVAR
Trait Synonyms: Immotile cilia syndrome; Polynesian bronchiectasis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14704974
Created: 2019-09-06
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.