GALNT8 G245E - 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:

GALNT8 G245E

(GALNT8 Gly245Glu)


You are viewing the latest version of this page, saved on November 29, 2012 at 4:43am by Genome Importing Robot.

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 @ chr12:4853740: 0.8% (91/10758) in EVS
  • A @ chr12:4724000: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (91/10758)

Publications
 

Genomes
 

Added in this revision:

 

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr12:4724001

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr12:4724001

 

Other external references
 

    dbSNP
  • rs34687270
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.992 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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