TLN2 S460X - 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:

TLN2 S460X

(TLN2 Ser460Stop)


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
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het GA @ chr15:62989973

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het GA @ chr15:62989973

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GA @ chr15:62989973

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GA @ chr15:62989973

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het GA @ chr15:62989973

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GA @ chr15:62989973

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het GA @ chr15:62989973

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het GA @ chr15:62989973

 

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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