PDE4DIP L601Shift - 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:

PDE4DIP L601Shift

(PDE4DIP 601delLinsShift)


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

  • - @ chr1:143626980: 10.0% (12/120) in GET-Evidence
  • Frequency shown in summary reports: 10.0% (12/120)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het - @ chr1:144915624

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het - @ chr1:144915624

 

hu34D5B9 - hu34D5B9 exome
het - @ chr1:144915624

 

GS06994 - var-GS06994-1100-36-ASM
het - @ chr1:143626981

 

GS18526 - var-GS18526-1100-36-ASM
het - @ chr1:143626981

 

GS18537 - var-GS18537-1100-36-ASM
het - @ chr1:143626981

 

GS18558 - var-GS18558-1100-36-ASM
het - @ chr1:143626981

 

GS18940 - var-GS18940-1100-36-ASM
het - @ chr1:143626981

 

GS18942 - var-GS18942-1100-36-ASM
het - @ chr1:143626981

 

GS18947 - var-GS18947-1100-36-ASM
het - @ chr1:143626981

 

GS18956 - var-GS18956-1100-36-ASM
het - @ chr1:143626981

 

GS19735 - var-GS19735-1100-36-ASM
het - @ chr1:143626981

 

Other external references
 

    dbSNP
  • rs1778112
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs66512216
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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