GOLGA3 G70E - 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:

GOLGA3 G70E

(GOLGA3 Gly70Glu)


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 @ chr12:133393323: 6.1% (659/10758) in EVS
  • T @ chr12:131903395: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.1% (659/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr12:133393323

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr12:133393323

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr12:133393323

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr12:133393323

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr12:133393323

 

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr12:131903396

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr12:131903396

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr12:131903396

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr12:131903396

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr12:131903396

 

Other external references
 

    dbSNP
  • rs2291256
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (4 hits -- see all)
  • GOLGA3 Gene - GeneCards | GOGA3 Protein | GOGA3 Antibody
    Gene Wiki entry for GOLGA3. Genomic Location. for GOLGA3 gene (According to GeneLoc and/or ... GOLGA3 Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=GOLGA3
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ... 12 phase1 g175148 rs2291256 132003673 -1 G/A no ENSG00000090615 GOLGA3. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • Golgin subfamily A member 3 - Homo sapiens (Human)
    GOLGA3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... G E: dbSNP rs2291256. VAR_020153. Natural variant. 264. 1. P L: dbSNP ...
    www.uniprot.org/uniprot/Q08378

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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