DMD K2366Q - 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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DMD K2366Q

(DMD Lys2366Gln)

You are viewing an old version of this page that was saved on November 29, 2012 at 4:34am 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

  • G @ chrX:31893307: 20.1% (1764/8758) in EVS
  • G @ chrX:31803227: 15.2% (14/92) in GET-Evidence
  • Frequency shown in summary reports: 20.1% (1764/8758)






Added in this revision:




huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chrX:31893307


GS06985 - var-GS06985-1100-36-ASM
het G @ chrX:31803228


GS12004 - var-GS12004-1100-36-ASM
het G @ chrX:31803228


GS18501 - var-GS18501-1100-36-ASM
hom G @ chrX:31803228


GS18508 - var-GS18508-1100-36-ASM
het G @ chrX:31803228


GS18940 - var-GS18940-1100-36-ASM
hom G @ chrX:31803228


GS19129 - var-GS19129-1100-36-ASM
het G @ chrX:31803228


GS19649 - var-GS19649-1100-36-ASM
hom G @ chrX:31803228


GS19704 - var-GS19704-1100-36-ASM
het G @ chrX:31803228


GS19735 - var-GS19735-1100-36-ASM
hom G @ chrX:31803228


Other external references

  • rs1800275
  • GeneTests records for the DMD gene
    DMD-Associated Dilated Cardiomyopathy
    DMD-Related Dilated Cardiomyopathy
  • Score: 0.875 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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