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Variant : CV642678 (NM_031427.4(DNAL1):c.503del (p.Lys168fs)) Homo sapiens

Symbol: CV642678
Name: NM_031427.4(DNAL1):c.503del (p.Lys168fs)
Condition: Ciliary dyskinesia, primary, 16 [RCV000792540]
Clinical Significance: uncertain significance
Last Evaluated: 12/20/2018
Review Status: criteria provided, single submitter
Related Genes: DNAL1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_001201366.2:c.386del
NM_031427.4:c.503del
NG_028083.1:g.49612del
NG_028083.2:g.49612del
NC_000014.9:g.73689486del
NC_000014.8:g.74156189del
NM_031427.3:c.503delA
NP_001188295.1:p.Lys129fs
NP_113615.2:p.Lys168fs
Position
Human AssemblyChrPosition (strand)Source
GRCh381473,689,486 - 73,689,486CLINVAR
GRCh371474,156,189 - 74,156,189CLINVAR
Cytogenetic Map1414q24.3CLINVAR
Trait Synonyms: CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14703177
Created: 2019-09-06
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.