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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ANK2 V2369A

(ANK2 Val2369Ala)


You are viewing the latest version of this page, saved on November 29, 2012 at 4:52am 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

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr4:114276880

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr4:114276880

 

Added in this revision:

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr4:114276880

 

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":

Log in