MAPT GT539AA - 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:

MAPT GT539AA

(MAPT 539_540delGTinsAA)


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

  • CCG @ chr17:41429655: 0.8% (1/120) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (1/120)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het CCG @ chr17:44073819

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het CCG @ chr17:44073819

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het CCG @ chr17:44073819

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het CCG @ chr17:44073819

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het CCG @ chr17:44073819

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het CCG @ chr17:44073819

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het CCG @ chr17:44073819

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het CCG @ chr17:44073819

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het CCG @ chr17:44073819

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CCG @ chr17:44073819

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CCG @ chr17:44073819

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CCG @ chr17:44073819

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het CCG @ chr17:44073819

 

GS20502 - var-GS20502-1100-36-ASM
het CCG @ chr17:41429656

 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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