CENPJ M21V - 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:

CENPJ M21V

(CENPJ Met21Val)


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 @ chr13:25487103: 12.4% (1329/10758) in EVS
  • C @ chr13:24385102: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 12.4% (1329/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr13:25487103

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr13:25487103

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr13:25487103

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr13:25487103

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr13:25487103

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr13:25487103

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr13:24385103

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr13:24385103

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr13:24385103

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr13:24385103

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr13:24385103

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr13:24385103

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr13:24385103

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr13:24385103

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr13:24385103

 

Other external references
 

    dbSNP
  • rs35498994
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CENPJ gene
    Primary Autosomal Recessive Microcephaly
    Primary Autosomal Recessive Microcephaly Type 6
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CENPJ
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (3 hits -- see all)
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16954781*MIS12 NM_024039 NP_076944*M21V*homolog of yeast Mis12. rs16955011ZNF183L1 ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Database support and reviews - - ASD 2.5.8.dmg.019 (01/34 ...
    Home > Archive > Database support and reviews > November 2005 > - ASD ... You are viewing an archived Text-only version of the thread. To view this thread in it's ...
    www.webservertalk.com/archive290-2005-11-1267328.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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