TRIOBP S540Del - 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 S540Del

(TRIOBP 540delSins)


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

  • - @ chr22:36450125: 11.4% (10/88) in GET-Evidence
  • Frequency shown in summary reports: 11.4% (10/88)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het - @ chr22:38120176

 

hu34D5B9 - hu34D5B9 exome
het - @ chr22:38120176

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het - @ chr22:38120176

 

GS07357 - var-GS07357-1100-36-ASM
het - @ chr22:36450126

 

GS18508 - var-GS18508-1100-36-ASM
het - @ chr22:36450126

 

GS18526 - var-GS18526-1100-36-ASM
het - @ chr22:36450126

 

GS19017 - var-GS19017-1100-36-ASM
het - @ chr22:36450126

 

GS19129 - var-GS19129-1100-36-ASM
het - @ chr22:36450126

 

GS19238 - var-GS19238-1100-36-ASM
het - @ chr22:36450126

 

GS19239 - var-GS19239-1100-36-ASM
het - @ chr22:36450126

 

GS20509 - var-GS20509-1100-36-ASM
het - @ chr22:36450126

 

Other external references
 

    dbSNP
  • rs71700469
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs36219868
    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

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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