AL157420 F154Shift - GET-Evidence

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

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AL157420 F154Shift

(AL157420 154delFinsShift)

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

  • A,- @ chr1:31505203: 41.7% (5/12) in GET-Evidence
  • Frequency shown in summary reports: 41.7% (5/12)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het - @ chr1:31732603








GS18505 - var-GS18505-1100-36-ASM
het - @ chr1:31505204


GS18555 - var-GS18555-1100-36-ASM
hom - @ chr1:31505205


GS18947 - var-GS18947-1100-36-ASM
het - @ chr1:31505205


Other external references

  • rs59591825
  • rs112440194

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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