MYOM2 V363I - 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:

MYOM2 V363I

(MYOM2 Val363Ile)


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

  • A @ chr8:2021547: 3.1% (329/10758) in EVS
  • A @ chr8:2008953: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (329/10758)

Publications
 

Genomes
 

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr8:2008954

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr8:2008954

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr8:2008954

 

Other external references
 

    dbSNP
  • rs34316994
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (6 hits -- see all)
  • Myomesin-2 - Homo sapiens (Human)
    ... OS=Homo sapiens GN=MYOM2 PE=2 SV=2 MSLVTVPFYQKRHRHFDQSYRNIQTRYLLDEYASKKRASTQASSQKSLSQRSSSQRASSQ ... MYOM2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/P54296
  • MYOM2 Gene - GeneCards | MYOM2 Protein | MYOM2 Antibody
    Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 ... MYOM2 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=MYOM2&snp=796
  • UniProt: P54296
    AC P54296; Q7Z3Y2; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. ... Full=165 kDa connectin-associated protein; GN Name=MYOM2; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P54296

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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