GLI3 P998L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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GLI3 P998L

(GLI3 Pro998Leu)


You are viewing an old version of this page that was saved on May 12, 2010 at 12:01pm 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

  • A @ chr7:42005678: 25.2% (2205/8734) in EVS
  • A @ chr7:41972202: 20.8% (5/24) in GET-Evidence
  • Frequency shown in summary reports: 25.2% (2205/8734)

Publications
 

Genomes
 

NA07022

 

snp-26

 

snp-3

 

Added in this revision:

snp-32

 

Other external references
 

    GeneTests
  • GeneTests records for the GLI3 gene
    GLI3-Related Disorders
    Greig Cephalopolysyndactyly Syndrome
    Pallister-Hall Syndrome
    Postaxial Polydactyly Type A
    Preaxial Polydactyly Type IV
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLI3
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (12 hits -- see all)
  • Greig Cephalopolysyndactyly Syndrome
    GLI3 alterations (i.e., cytogenetic abnormalities involving GLI3 or mutations of ... detect GLI3 deletions but it is reasonable to expect that CGH array would ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • Genetic screening of 202 individuals with congenital limb ...
    banded karyotypes and screened EN1, GLI3, HAND2, HOXD13, ROR2, SALL1, SALL4, ... Based on higher mutation prevalence we propose that GLI3, HOXD13 and the ZRS of ...
    jmg.bmj.com/content/early/2009/05/07/...
  • SHH - sonic hedgehog homolog (Drosophila)
    The GLI3 protein is another negative regulator of SHH signaling. ... 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, ...
    www.ihop-net.org/UniPub/iHOP/gs/92150.html
  • ISI Export Format
    SEROTONIN REUPTAKE INHIBITORS; CULTURED ASTROCYTES; TYROSINE KINASE; ... Fluoxetine has relatively high affinity for Gq/11 protein-coupled 5-HT2 receptors. ...
    library.cmu.edu.cn/scie-ei/savedrecs2008.html
  • view web only data 246 KB
    P998L. rs929387. 14. 3083G>T and 3084C>T. S1038I. ss120037501. Two patients ... Presumed non-pathogenic variants in GLI3. Variant. No of patients affected (number with ...
    jmg.bmj.com/content/suppl/2009/10/30/jmg.2009.066027.DC1/...
  • Pubget: authors:"Maria-Merc√® Garcia-Barcel√≥" - MNX1 (HLXB9 ...
    Mutational analysis of SHH and GLI3 in anorectal malformations. ... 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, ...
    pubget.com/search?q=authors:"Maria-Merc%C3%A8+...
  • Pubget: authors:"Stacey S Cherny"
    Mutational analysis of SHH and GLI3 in anorectal malformations. ... 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, ...
    pubget.com/search?q=authors:"Stacey S Cherny"

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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