CACNG5 V194I - 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:

CACNG5 V194I

(CACNG5 Val194Ile)


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 @ chr17:64880788: 0.0% (5/10758) in EVS
  • A @ chr17:62311249: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (5/10758)

Publications
 

Genomes
 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr17:62311250

 

Other external references
 

    dbSNP
  • rs2286677
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • CACNG5 Gene - GeneCards | CCG5 Protein | CCG5 Antibody
    CACNG5 Gene in genomic location: bands according to Ensembl, ... Enzo Life Sciences assays for CACNG5. Protein Domains/ Families. for CACNG5 gene ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CACNG5
  • 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
  • Mooney Lab - MutDB
    CACNG5. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs2286677. 193. V I. NCBI. In dbsnp. None. Not scored. Synonymous Mutation List. Back to ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=CACNG5&geneid=27091
  • Table S2.
    Supplementary Table 2. HHRR association results for the dense set of 211SNPs in ... CACNG5. rs2286677. 65430889. maf. maf. maf. 156. rs1995695. 65446833. 0.668. 0. ...
    plosgenetics.org/article/...

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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