POMT2 A54E - 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:

POMT2 A54E

(POMT2 Ala54Glu)


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 @ chr14:77786864: 3.0% (306/10252) in EVS
  • T @ chr14:76856616: 2.9% (3/102) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (306/10252)

Publications
 

Genomes
 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr14:76856617

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr14:76856617

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr14:76856617

 

Other external references
 

    dbSNP
  • rs8177536
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.006 (benign)
    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... A297G rs8177536*POMT2 NM_013382 NP_037514*A54E*protein-O-mannosyltransferase 2 ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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