GARS R388Q - 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:

GARS R388Q

(GARS Arg388Gln)


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 @ chr7:30655643: 0.7% (68/9822) in EVS
  • A @ chr7:30622167: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.7% (68/9822)

Publications
 

Genomes
 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr7:30622168

 

Other external references
 

    dbSNP
  • rs17159287
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the GARS gene
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular At
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GARS
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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