STIL A86V - 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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(STIL Ala86Val)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:05pm by Genome Importing Robot.

Added in this revision:

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 @ chr1:47767914: 59.5% (6401/10758) in EVS
  • A @ chr1:47540500: 60.9% (78/128) in GET-Evidence
  • Frequency shown in summary reports: 59.5% (6401/10758)



Other external references

  • GeneTests records for the STIL gene
    Primary Autosomal Recessive Microcephaly
    Primary Autosomal Recessive Microcephaly Type 7
  • Score: 0 (benign)
    Web search results (11 hits -- see all)
  • Catalogue of Somatic Mutations in Cancer
    There are 118 additional mutations not displayed in the above image, as they are ... p.A86V(1) 88. p.E88G(1) p.E88V(1) 89. p.G89G(1) 92. p.D92N(1) 99. p.R99Q ...
  • http:/ ... ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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