CD99 N173I - GET-Evidence

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

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CD99 N173I

(CD99 Asn173Ile)

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

  • T @ chrX:2656283: 4.9% (532/10750) in EVS
  • T @ chrX:2666282: 10.5% (10/95) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (532/10750)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chrX:2656283






hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chrX:2656283




GS06985 - var-GS06985-1100-36-ASM
het T @ chrX:2666283


GS06994 - var-GS06994-1100-36-ASM
het T @ chrX:2666283


GS12004 - var-GS12004-1100-36-ASM
het T @ chrX:2666283


GS18508 - var-GS18508-1100-36-ASM
het T @ chrX:2666283


GS18537 - var-GS18537-1100-36-ASM
het T @ chrX:2666283


GS19700 - var-GS19700-1100-36-ASM
het T @ chrX:2666283


Other external references

  • rs4717
  • Score: 0.914 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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