C19ORF55 K365N - 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.

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Curation:
Currentness:

(See the latest version)

C19ORF55 K365N

(C19ORF55 Lys365Asn)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • C @ chr19:36258842: 10.0% (1000/9960) in EVS
  • C @ chr19:40950681: 8.7% (11/126) in GET-Evidence
  • Frequency shown in summary reports: 10.0% (1000/9960)

Publications
 

Genomes
 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr19:40950682

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr19:40950682

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr19:40950682

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr19:40950682

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr19:40950682

 

Added in this revision:

GS19735 - var-GS19735-1100-36-ASM
het C @ chr19:40950682

 

NA18507

 

NA19240

 

snp-3

 

Other external references
 

    dbSNP
  • rs231217
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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