MYOM2 T776M - 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 T776M

(MYOM2 Thr776Met)


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 @ chr8:2046700: 13.8% (1483/10758) in EVS
  • T @ chr8:2034106: 15.6% (20/128) in GET-Evidence
  • Frequency shown in summary reports: 13.8% (1483/10758)

Publications
 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr8:2046700

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr8:2046700

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr8:2046700

 

 

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr8:2034107

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr8:2034107

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr8:2034107

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr8:2034107

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr8:2034107

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr8:2034107

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr8:2034107

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr8:2034107

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr8:2034107

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr8:2034107

 

Other external references
 

    dbSNP
  • rs2294066
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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