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:

C19ORF55 K365N

(C19ORF55 Lys365Asn)


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
 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr19:36258842

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr19:36258842

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr19:36258842

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr19:36258842

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr19:36258842

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr19:36258842

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr19:36258842

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr19:36258842

 

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

 

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

 

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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