IFNA10 C20X - 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:

IFNA10 C20X

(IFNA10 Cys20Stop)


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 @ chr9:21207037: 19.4% (2081/10748) in EVS
  • T @ chr9:21197036: 25.0% (22/88) in GET-Evidence
  • Frequency shown in summary reports: 19.4% (2081/10748)

Publications
 

Genomes
 

hu34D5B9 - hu34D5B9 exome
het T @ chr9:21207037

 

 

huAE6220

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr9:21197037

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr9:21197037

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr9:21197037

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr9:21197037

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr9:21197037

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr9:21197037

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr9:21197037

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr9:21197037

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr9:21197037

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr9:21197037

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr9:21197037

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr9:21197037

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr9:21197037

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr9:21197037

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr9:21197037

 

GS19834 - var-GS19834-1100-36-ASM
hom T @ chr9:21197037

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr9:21197037

 

Other external references
 

    dbSNP
  • rs10119910
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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