GGCX R325Q - 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 R325Q

(GGCX Arg325Gln)


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

  • T @ chr2:85780536: 42.0% (4516/10758) in EVS
  • T @ chr2:85634046: 40.6% (52/128) in GET-Evidence
  • Frequency shown in summary reports: 42.0% (4516/10758)

Publications
 

Genomes
 

 

hu034DB1

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr2:85780536

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr2:85780536

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr2:85780536

 

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr2:85780536

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr2:85634047

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr2:85634047

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr2:85634047

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr2:85634047

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr2:85634047

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr2:85634047

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr2:85634047

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr2:85634047

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr2:85634047

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr2:85634047

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr2:85634047

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr2:85634047

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr2:85634047

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr2:85634047

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr2:85634047

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr2:85634047

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr2:85634047

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr2:85634047

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr2:85634047

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr2:85634047

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr2:85634047

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr2:85634047

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr2:85634047

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr2:85634047

 

GS19703 - var-GS19703-1100-36-ASM
hom T @ chr2:85634047

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr2:85634047

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr2:85634047

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr2:85634047

 

Other external references
 

    dbSNP
  • rs699664
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (34 hits -- see all)
  • CiNii - Nutritional Effects of γ-Glutamyl Carboxylase Gene ...
    Recently, it has been reported that single nucleotide polymorphisms of GGCX (R325Q, 974G>A) were associated with age-related bone loss and the ...
    ci.nii.ac.jp/naid/110006419361
  • Congress of the International Society on Thrombosis and ...
    The R325Q mutation is supposed to localize in the cytoplasmic region of GGCX. ... The R325Q mutation was in tight linkage disequilibrium with 8 SNPs in GGCX gene. ...
    www.blackwellpublishing.com/isth2005/abstract.asp?id=45396
  • Enzyme Research - Research from Japan Women's University ...
    NewsRx is the leading source of news and information on Enzyme Research ... R325Q in the GGCX gene on the correlation between the level of serum MK-7 and gamma ...
    newsrx.com/newsletters/.../2008-01-03/4401032008216WW.html
  • Maruyama, R (Rieko)
    Maruyama, R (Rieko) :: Enhancement effects of vitamin K1 (phylloquinone) or vitamin K2 (menaquinone-4) on ... reported that single nucleotide polymorphisms of GGCX (R325Q, 974G> ...
    lib.bioinfo.pl/auid:8051848
  • PHARMACOGENETICS OF ACENOCOUMAROL IN PATIENTS WITH EXTREME ...
    (rs1043550) and GGCX R325Q (rs699664) genes were performed. by validated TaqMan SNP ... GGCX R325Q. RR. RQ. QQ. 48. 44. 8. 45. 42. 13. 0.754. GENETIC POLYMORPHISMS ...
    spo.escardio.org/eslides/view.aspx?eevtid=33&id=1953
  • GGCX Gene - GeneCards | VKGC Protein | VKGC Antibody
    Complete information for GGCX gene (protein-coding), gamma-glutamyl carboxylase
    www.genecards.org/cgi-bin/carddisp.pl?gene=GGCX&pubmed=79
  • Akaiwa, Y (Yasuhisa)
    Akaiwa, Y (Yasuhisa) :: Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in ...
    lib.bioinfo.pl/auid:2533910
  • VKORC1 - vitamin K epoxide reductase complex, subunit 1
    Mutation analysis identified two GGCX mutations in the affected individuals (p. R83W and ... we identified GGCX 8016G>A, resulting in the missense mutation R325Q, as a genetic ...
    www.ihop-net.org/UniPub/iHOP/gs/102415.html
  • WorldWideScience.org - Result List for Carboxylase
    Search multiple science-oriented web sites for information regarding Carboxylase ... Kingdom) 16 Gamma-glutamyl carboxylase (GGCX) tagSNPs have limited utility for predicting ...
    worldwidescience.org/wwsindexer/search.html?...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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