MOGS P293S - 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:

MOGS P293S

(MOGS Pro293Ser)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

GVGD:GV 73.35; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.81);
PolyPhen=benign(0);
Condel=neutral(0.143)
Mutation Tasting prediction: Polymorphism p value: 0.999998; Protein features (might be) affected.

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 @ chr2:74690039: 33.2% (3294/9918) in EVS
  • A @ chr2:74543546: 43.8% (49/112) in GET-Evidence
  • Frequency shown in summary reports: 33.2% (3294/9918)

Publications
 

Genomes
 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr2:74690039

 

 

 

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr2:74690039

 

Added in this revision:

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr2:74543547

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr2:74543547

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr2:74543547

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr2:74543547

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr2:74543547

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr2:74543547

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr2:74543547

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr2:74543547

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr2:74543547

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr2:74543547

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr2:74543547

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr2:74543547

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr2:74543547

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr2:74543547

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr2:74543547

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr2:74543547

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr2:74543547

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr2:74543547

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr2:74543547

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr2:74543547

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr2:74543547

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr2:74543547

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr2:74543547

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr2:74543547

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr2:74543547

 

Other external references
 

    dbSNP
  • rs2268416
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (5 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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