DSP R1738Q - 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!


(See the latest version)

DSP R1738Q

(DSP Arg1738Gln)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:55pm by Genome Importing Robot.

Added in this revision:

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr6:7581636: 19.9% (2143/10758) in EVS
  • A @ chr6:7526634: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 19.9% (2143/10758)



Other external references

  • GeneTests records for the DSP gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
    Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma
    Skin Fragility-Woolly Hair Syndrome
  • Score: 0.295 (possibly damaging)
    Web search results (1 hit -- see all)
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 16959974 OR6C74 A6NCV1 R2G 5 VAR_036981 RSK (0.850) Polymorphism (dbSNP: ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in