RSPH4A R556H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

RSPH4A R556H

(RSPH4A Arg556His)


You are viewing an old version of this page that was saved on February 27, 2010 at 9:24pm by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr6:116950734: 16.7% (1793/10758) in EVS
  • A @ chr6:117057426: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 16.7% (1793/10758)

Publications
 

Genomes
 

NA07022

 

NA12156

 

NA12878

 

NA18956

 

NA19240

 

snp-3

 

Added in this revision:

snp-31

 

Other external references
 

    GeneTests
  • GeneTests records for the RSPH4A gene
    Primary Ciliary Dyskinesia
    Primary Ciliary Dyskinesia11: RSPH4A-Related Primary Ciliary Dys
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RSPH4A
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in