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.

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Curation:
Currentness:

(See the latest version)

CPS1 T1406N

(CPS1 Thr1406Asn)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • 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)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr2:211540507

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom A @ chr2:211540507

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr2:211540507

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr2:211248752

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr2:211248752

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr2:211248752

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr2:211248752

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr2:211248752

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr2:211248752

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr2:211248752

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr2:211248752

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr2:211248752

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr2:211248752

 

Added in this revision:

GS19238 - var-GS19238-1100-36-ASM
het A @ chr2:211248752

 

NA12156

 

NA12878

 

NA18517

 

NA18956

 

NA19129

 

snp-18

 

snp-2

 

snp-28

 

snp-29

 

snp-30

 

Other external references
 

    dbSNP
  • rs1047891
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CPS1 gene
    21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
    Carbamoylphosphate Synthetase I Deficiency
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPS1
    PolyPhen-2
  • 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 ...
    interscience.wiley.com/homepages/38515/pdf/mutation/589.pdf
  • 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" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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