ACOX1 G101S - 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:

ACOX1 G101S

(ACOX1 Gly101Ser)


You are viewing the latest version of this page, saved on June 23, 2011 at 12:13am 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

  • T @ chr17:71481429: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 7.8% (10/128)

Publications
 

Genomes
 

huAE6220

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr17:71481430

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr17:71481430

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr17:71481430

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr17:71481430

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr17:71481430

 

NA12878

 

NA18555

 

Deleted in this revision:

NA18555

 

Other external references
 

    dbSNP
  • rs3744032
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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