MUC17 S1237N - 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!


MUC17 S1237N

(MUC17 Ser1237Asn)

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

  • A @ chr7:100678407: 3.6% (384/10758) in EVS
  • CAA @ chr7:100465124: 2.9% (3/104) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (384/10758)



hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het CAA @ chr7:100678405


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CAA @ chr7:100678405




huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CAA @ chr7:100678405


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CAA @ chr7:100678405


GS19239 - var-GS19239-1100-36-ASM
het CAA @ chr7:100465125


Other external references

  • rs4729648

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

Log in