NOTCH2 L1413H - 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:

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NOTCH2 L1413H

(NOTCH2 Leu1413His)


You are viewing an old version of this page that was saved on June 9, 2011 at 8:11am by Han Luu.

Edited in this revision:

Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.033
SIFT: Tolerated 0.09
GVGD: Prediction Class C65

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 @ chr1:120468201: 0.3% (35/10754) in EVS
  • Frequency shown in summary reports: 0.3% (35/10754)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs41313282
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.004 (benign)
    Web search results (1 hit -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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