TRIOBP T817S - 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 T817S

(TRIOBP Thr817Ser)


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

  • G @ chr22:38121013: 5.6% (560/10030) in EVS
  • G @ chr22:36450958: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 5.6% (560/10030)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr22:38121013

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr22:38121013

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr22:38121013

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr22:38121013

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr22:36450959

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr22:36450959

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr22:36450959

 

Other external references
 

    dbSNP
  • rs41302575
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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
    PolyPhen-2
  • Score: 0.16 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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