MED25 Q671P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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MED25 Q671P

(MED25 Gln671Pro)

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

  • CT @ chr19:55031340: 2.9% (3/104) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (3/104)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het CT @ chr19:50339529


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CT @ chr19:50339529


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het CT @ chr19:50339529


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CT @ chr19:50339529


GS19017 - var-GS19017-1100-36-ASM
het CT @ chr19:55031341


GS19670 - var-GS19670-1100-36-ASM
het CT @ chr19:55031341


Other external references

  • Score: 0.508 (possibly damaging)

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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