TG R2530Q - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

TG R2530Q

(TG Arg2530Gln)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:45am 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 @ chr8:134125682: 57.2% (6158/10758) in EVS
  • A @ chr8:134194863: 55.5% (71/128) in GET-Evidence
  • Frequency shown in summary reports: 57.2% (6158/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr8:134125682

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr8:134125682

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr8:134125682

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr8:134125682

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr8:134125682

 

 

 

Added in this revision:

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr8:134125682

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr8:134125682

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr8:134125682

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr8:134125682

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr8:134125682

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr8:134125682

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr8:134125682

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr8:134125682

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr8:134194864

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr8:134194864

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr8:134194864

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr8:134194864

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr8:134194864

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr8:134194864

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr8:134194864

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr8:134194864

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr8:134194864

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr8:134194864

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr8:134194864

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr8:134194864

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr8:134194864

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr8:134194864

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr8:134194864

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr8:134194864

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr8:134194864

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr8:134194864

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr8:134194864

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr8:134194864

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr8:134194864

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr8:134194864

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr8:134194864

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr8:134194864

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr8:134194864

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr8:134194864

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr8:134194864

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr8:134194864

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr8:134194864

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr8:134194864

 

Other external references
 

    dbSNP
  • rs1133076
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (2 hits -- see all)
  • Type II- 99%
    ... VAR_017846 AKT (0.748) AIMAH, pituitary tumor and polyostotic fibrous dysplasia ... Polymorphism (dbSNP:rs5743673) TG P01266 R2530Q 2533 VAR_010222 RSK ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_99.txt
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... F518S 523 VAR_001996 PDGFR (0.646) TG P01266 R1979W 1977 VAR_032013 PKC (0.800) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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