CTDP1 E582EE - 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:

CTDP1 E582EE

(CTDP1 582delEinsEE)


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
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het GGA @ chr18:77475188

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het GGA @ chr18:77475188

 

GS18537 - var-GS18537-1100-36-ASM
het GGA @ chr18:75576197

 

GS18555 - var-GS18555-1100-36-ASM
hom GGA @ chr18:75576197

 

GS19649 - var-GS19649-1100-36-ASM
het GGA @ chr18:75576197

 

Other external references
 

    dbSNP
  • rs3833180
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs72147810
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs35893234
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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