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Variant : CV336897 (NM_031427.4(DNAL1):c.*3653C>T) Homo sapiens

Symbol: CV336897
Name: NM_031427.4(DNAL1):c.*3653C>T
Condition: Ciliary dyskinesia [RCV000368013]|Primary ciliary dyskinesia [RCV000368013]
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.59721C>T
NC_000014.9:g.73699595C>T
NC_000014.8:g.74166298C>T
NM_001201366.2:c.*3653C>T
NM_031427.4:c.*3653C>T
NG_028083.2:g.59721C>T
NM_031427.3:c.*3653C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,699,595 - 73,699,595CLINVAR
GRCh371474,166,298 - 74,166,298CLINVAR
Cytogenetic Map1414q24.3CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11623055
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.