LNPEP DY55ED - 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:

LNPEP DY55ED

(LNPEP 55_56delDYinsED)


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 GG @ chr5:96315029

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het GG @ chr5:96315029

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het GG @ chr5:96315029

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het GG @ chr5:96315029

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GG @ chr5:96315029

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GG @ chr5:96315029

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het GG @ chr5:96315029

 

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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