MT1IP E20R - 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!


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(MT1IP Glu20Arg)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • CG @ chr16:55267228: 96.0% (119/124) in GET-Evidence
  • Frequency shown in summary reports: 96.0% (119/124)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom CG @ chr16:56709728


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom CG @ chr16:56709728


hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom CG @ chr16:56709728


hu43860C - CGI sample GS00253-DNA_A01_200_37
hom CG @ chr16:56709728


hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom CG @ chr16:56709728


hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom CG @ chr16:56709728


huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom CG @ chr16:56709728


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom CG @ chr16:56709728


huC30901 - CGI sample GS00253-DNA_B01_200_37
hom CG @ chr16:56709728


huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom CG @ chr16:56709728


Added in this revision:

GS07357 - var-GS07357-1100-36-ASM
hom CG @ chr16:55267229


GS12004 - var-GS12004-1100-36-ASM
hom CG @ chr16:55267229


GS18504 - var-GS18504-1100-36-ASM
hom CG @ chr16:55267229


GS18505 - var-GS18505-1100-36-ASM
hom CG @ chr16:55267229


Other external references

  • rs71380433
  • rs8046181

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history

Gene search

"GENE" or "GENE A123C":

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