TNXB V3186I - 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:

TNXB V3186I

(TNXB Val3186Ile)


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 @ chr6:32017242: 7.8% (513/6582) in EVS
  • T @ chr6:32125219: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 7.8% (513/6582)

Publications
 

Genomes
 

 

 

 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr6:32017242

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr6:32125220

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr6:32125220

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr6:32125220

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr6:32125220

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr6:32125220

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr6:32125220

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr6:32125220

 

Other external references
 

    dbSNP
  • rs41258944
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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