GNAT2 L107I - 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:

GNAT2 L107I

(GNAT2 Leu107Ile)


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 @ chr1:110151395: 1.8% (190/10758) in EVS
  • T @ chr1:109952917: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (190/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr1:110151395

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr1:110151395

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:109952918

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:109952918

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:109952918

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr1:109952918

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr1:109952918

 

Other external references
 

    dbSNP
  • rs3738766
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.704 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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