TINF2 G237D - 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:

TINF2 G237D

(TINF2 Gly237Asp)


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 @ chr14:24709976: 3.8% (378/10042) in EVS
  • T @ chr14:23779815: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.8% (378/10042)

Publications
 

Genomes
 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr14:23779816

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr14:23779816

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr14:23779816

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr14:23779816

 

Other external references
 

    dbSNP
  • rs17102313
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.992 (probably damaging)
    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    rs17102311*TINF2 NM_012461 NP_036593*P241S)TERF1 (TRF1)-interacting ... rs17102313*G237D. rs17102531. rs17102592*F354C. rs17102750*BAZ1A NM_013448 NP_038476*D344E. ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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