GLI3 T183A - GET-Evidence

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

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GLI3 T183A

(GLI3 Thr183Ala)

Short summary


Variant evidence
Computational 2

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 58.02; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
Mutation Tasting Prediction: Polymorphism, P value: 0.999980; protein features (might be) affected.

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr7:42088222: 66.6% (7160/10758) in EVS
  • C @ chr7:42054746: 56.7% (68/120) in GET-Evidence
  • Frequency shown in summary reports: 66.6% (7160/10758)


Garcia-Barceló MM, Chi-Hang Lui V, Miao X, So MT, Yuk-yu Leon T, Yuan ZW, Li L, Liu L, Wang B, Sun XB, Huang LM, Tou JF, Sau-wai Ngan E, Cherny SS, Chan KW, Lee KH, Wang W, Kak-yuen Wong K, Kwong-hang Tam P. Mutational analysis of SHH and GLI3 in anorectal malformations. Birth Defects Res A Clin Mol Teratol. 2008 Sep;82(9):644-8. PubMed PMID: 18655123.




hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr7:42088222


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr7:42088222










hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr7:42088222




hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr7:42088222



















GS06985 - var-GS06985-1100-36-ASM
hom C @ chr7:42054747


GS06994 - var-GS06994-1100-36-ASM
het C @ chr7:42054747


GS07357 - var-GS07357-1100-36-ASM
het C @ chr7:42054747


GS10851 - var-GS10851-1100-36-ASM
hom C @ chr7:42054747


GS12004 - var-GS12004-1100-36-ASM
hom C @ chr7:42054747


GS18501 - var-GS18501-1100-36-ASM
het C @ chr7:42054747


GS18502 - var-GS18502-1100-36-ASM
het C @ chr7:42054747


GS18504 - var-GS18504-1100-36-ASM
hom C @ chr7:42054747


GS18505 - var-GS18505-1100-36-ASM
hom C @ chr7:42054747


GS18508 - var-GS18508-1100-36-ASM
hom C @ chr7:42054747


GS18517 - var-GS18517-1100-36-ASM
hom C @ chr7:42054747


GS18537 - var-GS18537-1100-36-ASM
het C @ chr7:42054747


GS18555 - var-GS18555-1100-36-ASM
het C @ chr7:42054747


GS18558 - var-GS18558-1100-36-ASM
het C @ chr7:42054747


GS18940 - var-GS18940-1100-36-ASM
het C @ chr7:42054747


GS18942 - var-GS18942-1100-36-ASM
het C @ chr7:42054747


GS18947 - var-GS18947-1100-36-ASM
hom C @ chr7:42054747


GS18956 - var-GS18956-1100-36-ASM
hom C @ chr7:42054747


GS19017 - var-GS19017-1100-36-ASM
het C @ chr7:42054747


GS19020 - var-GS19020-1100-36-ASM
hom C @ chr7:42054747


GS19025 - var-GS19025-1100-36-ASM
hom C @ chr7:42054747


GS19026 - var-GS19026-1100-36-ASM
hom C @ chr7:42054747


GS19129 - var-GS19129-1100-36-ASM
hom C @ chr7:42054747


GS19239 - var-GS19239-1100-36-ASM
hom C @ chr7:42054747


GS19240 - var-GS19240-1100-36-ASM
hom C @ chr7:42054747


GS19669 - var-GS19669-1100-36-ASM
het C @ chr7:42054747


GS19700 - var-GS19700-1100-36-ASM
het C @ chr7:42054747


GS19703 - var-GS19703-1100-36-ASM
hom C @ chr7:42054747


GS19704 - var-GS19704-1100-36-ASM
hom C @ chr7:42054747


GS19834 - var-GS19834-1100-36-ASM
hom C @ chr7:42054747


GS20502 - var-GS20502-1100-36-ASM
het C @ chr7:42054747


GS21767 - var-GS21767-1100-36-ASM
hom C @ chr7:42054747


Other external references

  • rs846266
  • GeneTests records for the GLI3 gene
    GLI3-Related Disorders
    Greig Cephalopolysyndactyly Syndrome
    Pallister-Hall Syndrome
    Postaxial Polydactyly Type A
    Preaxial Polydactyly Type IV
  • Score: 0 (benign)
    Web search results (6 hits -- see all)
  • SHH - sonic hedgehog homolog (Drosophila)
    The GLI3 protein is another negative regulator of SHH signaling. ... RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8 ...
  • ISI Export Format
    SEROTONIN REUPTAKE INHIBITORS; CULTURED ASTROCYTES; TYROSINE KINASE; ... Fluoxetine has relatively high affinity for Gq/11 protein-coupled 5-HT2 receptors. ...
  • EurekaMag: Top > Research > Chapter 12275
    Loss of Gli3 enhances the viability of embryonic telencephalic cells ... Loss of glycosylation associated with the T183A mutation in human prion disease. Loss of growth hormone ...
  • Pubget: authors:"Maria-Mercè Garcia-Barceló" - MNX1 (HLXB9 ...
    PURPOSE: The combination of partial absence of the sacrum, anorectal anomalies, and ... GLI3 in anorectal malformations. We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4 ..."Maria-Merc%C3%A8+...
  • Pubget: authors:"Stacey S Cherny"
    Chromosome 3p was reported by previous studies as one of the regions showing strong ... GLI3 in anorectal malformations. We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4 ..."Stacey S Cherny"

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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