SLC4A3 D867A - 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:

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SLC4A3 D867A

(SLC4A3 Asp867Ala)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:58pm 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

  • C @ chr2:220502367: 67.4% (7247/10756) in EVS
  • Frequency shown in summary reports: 67.4% (7247/10756)

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het C @ chr2:220210611

 

NA07022

 

NA12878

 

NA18507

 

NA18555

 

NA18956

 

snp-18

 

snp-6

 

Deleted in this revision:

snp-6

 

Other external references
 

    dbSNP
  • rs635311
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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