PLEC E2458EVQE - 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:

PLEC E2458EVQE

(PLEC 2458delEinsEVQE)


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
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het CCTCCTGCA @ chr8:144997133

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CCTCCTGCA @ chr8:144997133

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het CCTCCTGCA @ chr8:144997133

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het CCTCCTGCA @ chr8:144997133

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het CCTCCTGCA @ chr8:144997133

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CCTCCTGCA @ chr8:144997133

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CCTCCTGCA @ chr8:144997133

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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