MTMR2 E502Q - 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:

MTMR2 E502Q

(MTMR2 Glu502Gln)


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

  • G @ chr11:95571347: 3.3% (359/10758) in EVS
  • G @ chr11:95210994: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (359/10758)

Publications
 

Genomes
 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr11:95571347

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr11:95210995

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr11:95210995

 

Other external references
 

    dbSNP
  • rs61735578
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • Inherited Peripheral Neuropathies
    Mutations in MTMR2. Name. c.8C>A. Alias. Thr3Lys. Description. Point mutation in coding region ... E502Q. Region. EX13. CDS. Date Added: 28-Jun-01. ID: 497. Name. c.[1634A>G] ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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