DNAH5 I4450V - 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.

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Curation:
Currentness:

(See the latest version)

DNAH5 I4450V

(DNAH5 Ile4450Val)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm 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

  • C @ chr5:13701536: 52.8% (5682/10758) in EVS
  • C @ chr5:13754535: 51.6% (66/128) in GET-Evidence
  • Frequency shown in summary reports: 52.8% (5682/10758)

Publications
 

Genomes
 

Added in this revision:

snp-1

 

Other external references
 

    GeneTests
  • GeneTests records for the DNAH5 gene
    Primary Ciliary Dyskinesia
    Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dysk
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNAH5
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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