TRIOBP T715I - 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:

TRIOBP T715I

(TRIOBP Thr715Ile)


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
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr22:38120707

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr22:38120707

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr22:38120707

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr22:38120707

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het T @ chr22:38120707

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr22:38120707

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr22:38120707

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr22:38120707

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr22:38120707

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr22:38120707

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr22:38120707

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr22:38120707

 

Other external references
 

    GeneTests
  • GeneTests records for the TRIOBP gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    DFNB28 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRIOBP

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in