CACNA1A E995V - 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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Curation:
Currentness:

(See the latest version)

CACNA1A E995V

(CACNA1A Glu995Val)


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 -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr19:13270471: 5.0% (4/80) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (4/80)

Publications
 

Genomes
 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr19:13270472

 

Added in this revision:

GS18956 - var-GS18956-1100-36-ASM
het A @ chr19:13270472

 

Other external references
 

    dbSNP
  • rs16023
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CACNA1A gene
    CACNA1A-Related Episodic Ataxia Type 2
    Episodic Ataxia Type 2
    Familial Hemiplegic Migraine
    Familial Hemiplegic Migraine 1
    Spinocerebellar Ataxia Type 6
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNA1A
    PolyPhen-2
  • Score: 0.125 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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