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

Variant : CV321138 (NM_031427.4(DNAL1):c.*205T>C) Homo sapiens

Symbol: CV321138
Name: NM_031427.4(DNAL1):c.*205T>C
Condition: Ciliary dyskinesia [RCV000321113]|Primary ciliary dyskinesia [RCV000321113]
Clinical Significance: likely benign
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.56273T>C
NC_000014.9:g.73696147T>C
NC_000014.8:g.74162850T>C
NM_031427.4:c.*205T>C
NG_028083.2:g.56273T>C
NM_031427.3:c.*205T>C
NM_001201366.2:c.*205T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,696,147 - 73,696,147CLINVAR
GRCh371474,162,850 - 74,162,850CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11605564
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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