Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV321228 (NM_031427.4(DNAL1):c.*5963G>C) Homo sapiens

Symbol: CV321228
Name: NM_031427.4(DNAL1):c.*5963G>C
Condition: Ciliary dyskinesia [RCV000386789]|Primary ciliary dyskinesia [RCV000386789]
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.62031G>C
NC_000014.9:g.73701905G>C
NC_000014.8:g.74168608G>C
NM_001201366.2:c.*5963G>C
NM_031427.4:c.*5963G>C
NG_028083.2:g.62031G>C
NM_031427.3:c.*5963G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,701,905 - 73,701,905CLINVAR
GRCh371474,168,608 - 74,168,608CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11662497
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.