CPS1 T1406N - 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!


(See the latest version)

CPS1 T1406N

(CPS1 Thr1406Asn)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:54pm by Genome Importing Robot.

Added in this revision:

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr2:211540507: 32.9% (3543/10758) in EVS
  • A @ chr2:211248751: 26.6% (33/124) in GET-Evidence
  • Frequency shown in summary reports: 32.9% (3543/10758)



Other external references

  • GeneTests records for the CPS1 gene
    21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
    Carbamoylphosphate Synthetase I Deficiency
  • Score: 0 (benign)
    Web search results (2 hits -- see all)
  • Gene Structure of Human Carbamylphosphate Synthetase 1 and ...
    genomic structure of the CPS1 gene was not yet elucidated, mutation detection was ... in family 5, both parents were heterozygous for the T1406N polymorphism while the patient ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ ... "ú"#,##0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú" ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in