MLL2 P813L - 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:

MLL2 P813L

(MLL2 Pro813Leu)


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 @ chr12:49445028: 3.8% (382/10046) in EVS
  • A @ chr12:47731294: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.8% (382/10046)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr12:49445028

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr12:49445028

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr12:49445028

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr12:47731295

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr12:47731295

 

Other external references
 

    dbSNP
  • rs75226229
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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