GGCX R268Q - 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!

Curation:
Currentness:

GGCX R268Q

(GGCX Arg268Gln)


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

  • None available.

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het T @ chr2:85634047

 

Other external references
 

    dbSNP
  • rs699664
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (7 hits -- see all)
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 647) Polymorphism (dbSNP:rs12899901) GGCX P38435 L394R 395 VAR_005781 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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