GMPR2 G242D - 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:

GMPR2 G242D

(GMPR2 Gly242Asp)


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 @ chr14:24707479: 3.5% (375/10570) in EVS
  • A @ chr14:23777318: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.5% (375/10570)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr14:24707479

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr14:24707479

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom A @ chr14:24707479

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr14:24707479

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr14:23777319

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr14:23777319

 

Other external references
 

    dbSNP
  • rs34354104
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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