CD99 M166V - 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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CD99 M166V

(CD99 Met166Val)

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:2656261: 5.6% (603/10750) in EVS
  • G @ chrX:2666260: 11.6% (11/95) in GET-Evidence
  • Frequency shown in summary reports: 5.6% (603/10750)







hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chrX:2656261




GS06985 - var-GS06985-1100-36-ASM
het G @ chrX:2666261


GS06994 - var-GS06994-1100-36-ASM
het G @ chrX:2666261


GS12004 - var-GS12004-1100-36-ASM
het G @ chrX:2666261


GS18508 - var-GS18508-1100-36-ASM
hom G @ chrX:2666261


GS18537 - var-GS18537-1100-36-ASM
het G @ chrX:2666261


GS19700 - var-GS19700-1100-36-ASM
het G @ chrX:2666261


Other external references

  • rs11556080
  • Score: 0.194 (benign)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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