SCN1A I1944T - GET-Evidence

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

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SCN1A I1944T

(SCN1A Ile1944Thr)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr2:166847921: 0.9% (101/10756) in EVS
  • G @ chr2:166556166: 1.6% (2/126) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (101/10756)



GS18504 - var-GS18504-1100-36-ASM
het G @ chr2:166556167


Added in this revision:

GS19129 - var-GS19129-1100-36-ASM
het G @ chr2:166556167




Other external references

  • rs35735053
  • GeneTests records for the SCN1A gene
    Familial Hemiplegic Migraine
    Familial Hemiplegic Migraine 3
    SCN1A-Related Intractable Infantile Partial Seizures
    SCN1A-Related Seizure Disorders
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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