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!


C13ORF40 C1275X

(C13ORF40 Cys1275Stop)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



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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