C13ORF40 C1275X - 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:

C13ORF40 C1275X

(C13ORF40 Cys1275Stop)


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
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr13:103399222

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr13:103399222

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr13:103399222

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr13:103399222

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr13:103399222

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr13:103399222

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr13:103399222

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr13:103399222

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr13:103399222

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr13:103399222

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr13:103399222

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr13:103399222

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr13:103399222

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr13:103399222

 

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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