TG R2530Q - 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:

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TG R2530Q

(TG Arg2530Gln)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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

 

 

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

 

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

 

 

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

 

Added in this revision:

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

 

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

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-27

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-31

 

snp-6

 

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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