WDR36 M671V - 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:

WDR36 M671V

(WDR36 Met671Val)


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 @ chr5:110454757: 2.6% (275/10756) in EVS
  • G @ chr5:110482655: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 2.6% (275/10756)

Publications
 

Genomes
 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr5:110482656

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr5:110482656

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr5:110482656

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr5:110482656

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr5:110482656

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr5:110482656

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr5:110482656

 

Other external references
 

    dbSNP
  • rs11956837
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.065 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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