C14ORF184 R55T - 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:

C14ORF184 R55T

(C14ORF184 Arg55Thr)


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 @ chr14:92040793: 4.9% (484/9870) in EVS
  • G @ chr14:91110545: 11.9% (15/126) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (484/9870)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr14:92040793

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr14:92040793

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr14:92040793

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr14:91110546

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr14:91110546

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr14:91110546

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr14:91110546

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr14:91110546

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr14:91110546

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr14:91110546

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr14:91110546

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr14:91110546

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr14:91110546

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr14:91110546

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr14:91110546

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr14:91110546

 

Other external references
 

    dbSNP
  • rs12323881
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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