TBX1 N397H - 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:

TBX1 N397H

(TBX1 Asn397His)


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

  • None available.

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr22:19754091

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr22:19754091

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr22:19754091

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr22:19754091

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr22:19754091

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr22:19754091

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr22:19754091

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr22:19754091

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr22:19754091

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr22:19754091

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr22:19754091

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr22:19754091

 

Other external references
 

    dbSNP
  • rs72646967
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in