MYO7B L1351Shift - 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:

MYO7B L1351Shift

(MYO7B 1351delLinsShift)


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
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het CCA @ chr2:128383025

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het CCA @ chr2:128383025

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het CCA @ chr2:128383025

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CCA @ chr2:128383025

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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