PDE4DIP P1726PP - 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:

PDE4DIP P1726PP

(PDE4DIP 1726delPinsPP)


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 GGG @ chr1:144871783

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het GGG @ chr1:144871783

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het GGG @ chr1:144871783

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het GGG @ chr1:144871783

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het GGG @ chr1:144871783

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het GGG @ chr1:144871783

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het GGG @ chr1:144871783

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het GGG @ chr1:144871783

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GGG @ chr1:144871783

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het GGG @ chr1:144871783

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het GGG @ chr1:144871783

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GGG @ chr1:144871783

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het GGG @ chr1:144871783

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GGG @ chr1:144871783

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GGG @ chr1:144871783

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het GGG @ chr1:144871783

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GGG @ chr1:144871783

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het GGG @ chr1:144871783

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het GGG @ chr1:144871783

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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