C17ORF55 A49Shift - 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:

C17ORF55 A49Shift

(C17ORF55 49delAinsShift)


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

  • None available.

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr17:79279020

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het C @ chr17:79279020

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr17:79279020

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:79279020

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr17:79279020

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr17:79279020

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr17:79279020

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr17:76893615

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr17:76893615

 

Other external references
 

    dbSNP
  • rs3215153
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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