RGS22 H943Y - 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!


RGS22 H943Y

(RGS22 His943Tyr)

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 @ chr8:101011612: 0.3% (29/9664) in EVS
  • A @ chr8:101080787: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.3% (29/9664)



huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr8:101011612


GS18526 - var-GS18526-1100-36-ASM
het A @ chr8:101080788


GS18940 - var-GS18940-1100-36-ASM
het A @ chr8:101080788


GS19704 - var-GS19704-1100-36-ASM
het A @ chr8:101080788


Other external references

  • rs3133711
  • Score: 0.999 (probably damaging)
    Web search results (3 hits -- see all)
  • RGS22 Gene - GeneCards | RGS22 Protein | RGS22 Antibody
    RGS22 Gene. protein-coding GIFtS: 43. GC08M101044. regulator of G-protein signaling 22 ... RGS22 Gene in genomic location: bands according to Ensembl, locations ...
  • Regulator of G-protein signaling 22 - Homo sapiens (Human)
    Short name=RGS22. Gene names. Name: RGS22. Organism. Homo sapiens (Human) ... H Y: dbSNP rs3133711. VAR_051798. Experimental info. Sequence conflict. 86. 1. Missing in ...
  • UniProt: Q8NE09
    DT 09-JAN-2007, sequence version 3. DT 02-MAR-2010, entry version 48. DE RecName: ... signaling 22; DE Short=RGS22; GN Name=RGS22; OS Homo sapiens (Human) ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in