NR_024334 R85Shift - 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:

NR_024334 R85Shift

(NR_024334 85delRinsShift)


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
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr14:65878848

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het GG @ chr14:65878848

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr14:65878848

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr14:65878848

 

Other external references
 

    dbSNP
  • rs34007703
    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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