MLL3 C1114R - 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:

MLL3 C1114R

(MLL3 Cys1114Arg)


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

  • None available.

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr7:151919751

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr7:151919751

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr7:151919751

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr7:151919751

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr7:151919751

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr7:151919751

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr7:151919751

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr7:151919751

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr7:151919751

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr7:151919751

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr7:151919751

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr7:151919751

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr7:151919751

 

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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