GRIN3B T577M - 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:

GRIN3B T577M

(GRIN3B Thr577Met)


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 @ chr19:1005230: 43.4% (4671/10758) in EVS
  • T @ chr19:956229: 28.6% (28/98) in GET-Evidence
  • Frequency shown in summary reports: 43.4% (4671/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr19:1005230

 

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chr19:956230

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr19:956230

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr19:956230

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr19:956230

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr19:956230

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr19:956230

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr19:956230

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr19:956230

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr19:956230

 

GS19026 - var-GS19026-1100-36-ASM
hom T @ chr19:956230

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr19:956230

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr19:956230

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr19:956230

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr19:956230

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr19:956230

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr19:956230

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr19:956230

 

NA19240

 

Other external references
 

    dbSNP
  • rs2240158
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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