AGAP8 I168T - 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:

AGAP8 I168T

(AGAP8 Ile168Thr)


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
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr10:48902370

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr10:48902370

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het G @ chr10:48902370

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr10:48902370

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr10:48902370

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr10:48902370

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr10:48902370

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr10:48902370

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr10:48902370

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr10:48902370

 

Other external references
 

    dbSNP
  • rs71245232
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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