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Variant : CV400472 (NM_031427.4(DNAL1):c.4-4A>T) Homo sapiens

Symbol: CV400472
Name: NM_031427.4(DNAL1):c.4-4A>T
Condition: Ciliary dyskinesia, primary, 16 [RCV000474348]
Clinical Significance: likely benign
Last Evaluated: 10/06/2016
Review Status: criteria provided, single submitter
Related Genes: DNAL1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_028083.1:g.14969A>T
NC_000014.9:g.73654843A>T
NC_000014.8:g.74121546A>T
NM_001201366.2:c.-114-4A>T
NM_031427.4:c.4-4A>T
NG_028083.2:g.14969A>T
NM_031427.3:c.4-4A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,654,843 - 73,654,843CLINVAR
GRCh371474,121,546 - 74,121,546CLINVAR
Cytogenetic Map1414q24.3CLINVAR
Trait Synonyms: CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS
Age Of Onset: neonatal
Prevalence: 1-5 / 10 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12890285
Created: 2017-05-09
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.