MYOM2 A219V - 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:

MYOM2 A219V

(MYOM2 Ala219Val)


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

  • T @ chr8:2017399: 0.9% (102/10758) in EVS
  • T @ chr8:2004805: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (102/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr8:2017399

 

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr8:2004806

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr8:2004806

 

Other external references
 

    dbSNP
  • rs34823600
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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