GP6 P404Shift - GET-Evidence

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

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GP6 P404Shift

(GP6 404delPinsShift)

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

  • GACA @ chr19:60217933: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (4/128)



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het CAGA @ chr19:55526104


GS18940 - var-GS18940-1100-36-ASM
het GACA @ chr19:60217934


GS18956 - var-GS18956-1100-36-ASM
het GACA @ chr19:60217934


GS19648 - var-GS19648-1100-36-ASM
het GACA @ chr19:60217934


GS19701 - var-GS19701-1100-36-ASM
het GACA @ chr19:60217934


Other external references

  • rs59110861

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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