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Variant : CV362373 (NM_173494.2(PIH1D3):c.355C>T (p.Gln119Ter)) Homo sapiens

Symbol: CV362373
Name: NM_173494.2(PIH1D3):c.355C>T (p.Gln119Ter)
Condition: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED [RCV000417045]|Ciliary dyskinesia, primary, 36, X-linked [RCV000417045]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2017
Review Status: no assertion criteria provided
Related Genes: PIH1D3  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only
HGVS Name(s): NM_001169154.1:c.355C>T
NG_016377.1:g.21136C>T
NC_000023.11:g.107222767C>T
NC_000023.10:g.106465997C>T
NP_001162625.1:p.Gln119Ter
NP_775765.1:p.Gln119Ter
NM_173494.2:c.355C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X107,222,767 - 107,222,767CLINVAR
GRCh37X106,465,997 - 106,465,997CLINVAR
Cytogenetic MapXXq22.3CLINVAR
Trait Synonyms: CILIARY DYSKINESIA, PRIMARY, 36, WITH OR WITHOUT SITUS INVERSUS



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12791896
Created: 2017-03-07
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.