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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ANK2 V2369A

(ANK2 Val2369Ala)

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

  • 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)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
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


Added in this revision:

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










Other external references

  • rs28377576
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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