MRPS16 Y12H - 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:

MRPS16 Y12H

(MRPS16 Tyr12His)


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

  • G @ chr10:75011761: 5.8% (628/10758) in EVS
  • G @ chr10:74681766: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 5.8% (628/10758)

Publications
 

Genomes
 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr10:74681767

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr10:74681767

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr10:74681767

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr10:74681767

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr10:74681767

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr10:74681767

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr10:74681767

 

Other external references
 

    dbSNP
  • rs7905009
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MRPS16 gene
    Combined Oxidative Phosphorylation Deficiency
    Combined Oxidative Phosphorylation Deficiency 2
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MRPS16
    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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