PLEC S2791P - 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:

(See the latest version)

PLEC S2791P

(PLEC Ser2791Pro)


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

  • G @ chr8:144996029: 56.7% (5908/10426) in EVS
  • G @ chr8:145068016: 52.7% (58/110) in GET-Evidence
  • Frequency shown in summary reports: 56.7% (5908/10426)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr8:144996029

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr8:144996029

 

 

hu604D39

 

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr8:145068017

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr8:145068017

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr8:145068017

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr8:145068017

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr8:145068017

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr8:145068017

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr8:145068017

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr8:145068017

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr8:145068017

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr8:145068017

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr8:145068017

 

Added in this revision:

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr8:145068017

 

Other external references
 

    dbSNP
  • rs7833924
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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