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Variant : CV321256 (NM_031427.4(DNAL1):c.*7414_*7419del) Homo sapiens

Symbol: CV321256
Name: NM_031427.4(DNAL1):c.*7414_*7419del
Condition: Ciliary dyskinesia [RCV000381155]|Primary ciliary dyskinesia [RCV000381155]
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): NM_001201366.2:c.*7414_*7419del
NM_031427.4:c.*7414_*7419del
NG_028083.1:g.63482_63487del
NG_028083.2:g.63482_63487del
NC_000014.9:g.73703356_73703361del
NC_000014.8:g.74170059_74170064del
NM_031427.3:c.*7414_*7419delCAAGCT
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,703,356 - 73,703,361CLINVAR
GRCh371474,170,059 - 74,170,064CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11661900
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.