NOTCH1 R1279H - 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:

NOTCH1 R1279H

(NOTCH1 Arg1279His)


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 @ chr9:139401233: 1.6% (168/10472) in EVS
  • T @ chr9:138521053: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (168/10472)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr9:139401233

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr9:139401233

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr9:139401233

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr9:139401233

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr9:139401233

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr9:138521054

 

Other external references
 

    dbSNP
  • rs61751543
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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