SLC25A22 L150V - 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:

SLC25A22 L150V

(SLC25A22 Leu150Val)


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

  • C @ chr11:792692: 5.7% (594/10334) in EVS
  • C @ chr11:782691: 4.4% (4/90) in GET-Evidence
  • Frequency shown in summary reports: 5.7% (594/10334)

Publications
 

Genomes
 

 

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr11:782692

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr11:782692

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr11:782692

 

Other external references
 

    dbSNP
  • rs111277421
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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