TRIOBP E1372D - 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 E1372D

(TRIOBP Glu1372Asp)


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

  • T @ chr22:38130459: 22.2% (2194/9862) in EVS
  • T @ chr22:36460404: 26.2% (33/126) in GET-Evidence
  • Frequency shown in summary reports: 22.2% (2194/9862)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr22:38130459

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr22:38130459

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr22:38130459

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr22:38130459

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr22:38130459

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom T @ chr22:38130459

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr22:38130459

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr22:38130459

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr22:38130459

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr22:38130459

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr22:38130459

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr22:38130459

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr22:38130459

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr22:38130459

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr22:38130459

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr22:38130459

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr22:38130459

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr22:38130459

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr22:38130459

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr22:38130459

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr22:36460405

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr22:36460405

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr22:36460405

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr22:36460405

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr22:36460405

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr22:36460405

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr22:36460405

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr22:36460405

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr22:36460405

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr22:36460405

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr22:36460405

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr22:36460405

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr22:36460405

 

Other external references
 

    dbSNP
  • rs8140207
    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: 0.293 (possibly damaging)
    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":

Log in