NEB R4389T - 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:

(See the latest version)

NEB R4389T

(NEB Arg4389Thr)


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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 @ chr2:152422076: 64.8% (6203/9578) in EVS
  • G @ chr2:152130321: 65.6% (84/128) in GET-Evidence
  • Frequency shown in summary reports: 64.8% (6203/9578)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr2:152422076

 

NA07022

 

NA18507

 

Added in this revision:

NA19240

 

snp-1

 

snp-2

 

snp-26

 

snp-27

 

snp-6

 

Other external references
 

    dbSNP
  • rs2288210
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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