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Variant : CV330369 (NM_031427.4(DNAL1):c.*1823del) Homo sapiens

Symbol: CV330369
Name: NM_031427.4(DNAL1):c.*1823del
Condition: Ciliary dyskinesia [RCV000383587]|Primary ciliary dyskinesia [RCV000383587]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DNAL1  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000014.8:g.74164468del
NM_001201366.2:c.*1823del
NM_031427.4:c.*1823del
NG_028083.1:g.57891del
NG_028083.2:g.57891del
NC_000014.9:g.73697765del
NM_031427.3:c.*1823delA
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,697,765 - 73,697,765CLINVAR
GRCh371474,164,468 - 74,164,468CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11624230
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.