ANK2 V2369A - 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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ANK2 V2369A

(ANK2 Val2369Ala)


You are viewing an old version of this page that was saved on March 5, 2012 at 2:42pm 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 @ chr4:114276880: 14.3% (1539/10758) in EVS
  • C @ chr4:114496328: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 14.3% (1539/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr4:114276880

 

 

Added in this revision:

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr4:114496329

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr4:114496329

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr4:114496329

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr4:114496329

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr4:114496329

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr4:114496329

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr4:114496329

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr4:114496329

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr4:114496329

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr4:114496329

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr4:114496329

 

Other external references
 

    dbSNP
  • rs28377576
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (2 hits -- see all)
  • AceView: Gene:ANK2, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=ANK2
  • ANK2_Ankyrin mutations
    found in 6subjects spanning from normal to over LQT phenotype and cardiac arrest. ... V2369A. cSNP. TdP. Mank-Seymour 2006. A2423P. cSNP. TdP. Mank-Seymour 2006. P2835S. cSNP. TdP. Mank ...
    www.fsm.it/cardmoc/ANK2mut.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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