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Variant : CV321221 (NM_031427.4(DNAL1):c.*5318C>A) Homo sapiens

Symbol: CV321221
Name: NM_031427.4(DNAL1):c.*5318C>A
Condition: Ciliary dyskinesia [RCV000265694]|Primary ciliary dyskinesia [RCV000265694]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DNAL1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_028083.1:g.61386C>A
NC_000014.9:g.73701260C>A
NC_000014.8:g.74167963C>A
NM_001201366.2:c.*5318C>A
NM_031427.4:c.*5318C>A
NG_028083.2:g.61386C>A
NM_031427.3:c.*5318C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,701,260 - 73,701,260CLINVAR
GRCh371474,167,963 - 74,167,963CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11599469
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.