TCOF1 P1138R - 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:

TCOF1 P1138R

(TCOF1 Pro1138Arg)


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 @ chr5:149752472: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 10.9% (14/128)

Publications
 

Genomes
 

hu034DB1

 

hu04FD18

 

hu43860C

 

hu9385BA

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr5:149752473

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr5:149752473

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr5:149752473

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr5:149752473

 

Other external references
 

    dbSNP
  • rs1136103
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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