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Variant : CV788386 (NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)) Homo sapiens

Symbol: CV788386
Name: NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)
Condition: CILIARY DYSKINESIA, PRIMARY, 43 [RCV000983975]
Clinical Significance: pathogenic
Last Evaluated: 12/13/2019
Review Status: no assertion criteria provided
Related Genes: FOXJ1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NM_001454.4:c.826C>T
NG_013345.1:g.8507C>T
NC_000017.11:g.76137793G>A
NC_000017.10:g.74133874G>A
NP_001445.2:p.Gln276Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381776,137,793 - 76,137,793CLINVAR
GRCh371774,133,874 - 74,133,874CLINVAR
Cytogenetic Map1717q25.1CLINVAR
Trait Synonyms: CILIARY DYSKINESIA, PRIMARY, 43, WITH OR WITHOUT SITUS INVERSUS



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15146923
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-31
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.