ALG12 I393V - 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:

ALG12 I393V

(ALG12 Ile393Val)


You are viewing the latest version of this page, saved on November 29, 2012 at 6:01am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 5

PolyPhen2: Probably damaging 0.966
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 28.68; Class C25
Variant Effect Predictor (Ensembl):
SIFT=deleterious(0);
PolyPhen=possibly_damaging(0.247);
Condel=deleterious(0.860)
Mutation Tasting Prediction: Disease causing, P value: 0.998911; 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

  • C @ chr22:50297888: 9.0% (964/10758) in EVS
  • C @ chr22:48683891: 5.6% (7/126) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (964/10758)

Publications
 

Genomes
 

Added in this revision:

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr22:50297888

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr22:50297888

 

 

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr22:50297888

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr22:48683892

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr22:48683892

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr22:48683892

 

Other external references
 

    dbSNP
  • rs3922872
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.939 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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