MLL2 R83Q - 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:

MLL2 R83Q

(MLL2 Arg83Gln)


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 @ chr12:49448463: 2.3% (228/9988) in EVS
  • T @ chr12:47734729: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 2.3% (228/9988)

Publications
 

Genomes
 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr12:49448463

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr12:49448463

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr12:49448463

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr12:47734730

 

Other external references
 

    dbSNP
  • rs55865069
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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