EPSTI1 E395Shift - 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.

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EPSTI1 E395Shift

(EPSTI1 395delEinsShift)

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

  • TCAGG @ chr13:42360434: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (2/128)



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het TCAGG @ chr13:43462435


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het TCAGG @ chr13:43462435


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het TCAGG @ chr13:43462435


GS18502 - var-GS18502-1100-36-ASM
het TCAGG @ chr13:42360440


GS18504 - var-GS18504-1100-36-ASM
hom TCAGG @ chr13:42360440


GS18558 - var-GS18558-1100-36-ASM
het TCAGG @ chr13:42360440


GS18940 - var-GS18940-1100-36-ASM
het TCAGG @ chr13:42360440


GS18956 - var-GS18956-1100-36-ASM
het TCAGG @ chr13:42360435


GS19026 - var-GS19026-1100-36-ASM
het TCAGG @ chr13:42360440


GS19238 - var-GS19238-1100-36-ASM
hom TCAGG @ chr13:42360440


GS19239 - var-GS19239-1100-36-ASM
het TCAGG @ chr13:42360440


GS19240 - var-GS19240-1100-36-ASM
hom TCAGG @ chr13:42360440


GS19701 - var-GS19701-1100-36-ASM
het GGTCA @ chr13:42360438


GS21767 - var-GS21767-1100-36-ASM
het TCAGG @ chr13:42360440


Other external references

  • rs61389340
  • rs111313375

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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