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.

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Curation:
Currentness:

RGS22 H943Y

(RGS22 His943Tyr)


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 @ 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs3133711
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RGS22
  • 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 ...
    www.uniprot.org/uniprot/Q8NE09
  • 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) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q8NE09

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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