NOTCH2 C19W - 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:

NOTCH2 C19W

(NOTCH2 Cys19Trp)


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

  • C @ chr1:120611964: 32.0% (2924/9148) in EVS
  • C @ chr1:120413486: 20.8% (5/24) in GET-Evidence
  • Frequency shown in summary reports: 32.0% (2924/9148)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr1:120611964

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr1:120611964

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr1:120611964

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr1:120611964

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr1:120611964

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr1:120611964

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr1:120413487

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr1:120413487

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr1:120413487

 

NA12878

 

Other external references
 

    dbSNP
  • rs11810554
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (6 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in