PLEC V3162I - 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:

PLEC V3162I

(PLEC Val3162Ile)


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

  • T @ chr8:144994916: 7.0% (718/10214) in EVS
  • T @ chr8:145066903: 12.7% (16/126) in GET-Evidence
  • Frequency shown in summary reports: 7.0% (718/10214)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr8:144994916

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr8:144994916

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr8:145066904

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr8:145066904

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr8:145066904

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr8:145066904

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr8:145066904

 

GS19704 - var-GS19704-1100-36-ASM
hom T @ chr8:145066904

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr8:145066904

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr8:145066904

 

Other external references
 

    dbSNP
  • rs35027700
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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