CSF2RA N261Shift - 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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CSF2RA N261Shift

(CSF2RA 261delNinsShift)

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

  • ACAGAAAGGTCGGTGAG @ chrX:1373346: 1.1% (1/93) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (1/93)



GS19239 - var-GS19239-1100-36-ASM
het ACAGAAAGGTCGGTGAG @ chrX:1373347


Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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