| Variant ID | 532 |
|---|---|
| Entrez Gene ID | 2737 |
| Gene | GLI3 (GeneCards) |
| Location | hg19 7:42005285-42005286
hg38 7:41965687-41965688 |
| Disease | Pallister Hall syndrome (view all the variants in this disease) |
| Method | ABI377 |
| Mutation(HGVS format) | NC_000007.13:g.42005285_42005286 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 15 |
| Position in protein | 1129 |
| Amino acid changes in protein | F > NA |
| Position in cDNA | 3385 |
| Changes in cDNA | NA > NA |
| Indel | delTT |
| mRNA accession | NM_000168.5 |
| mRNA length | 4743 |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9172 (Deleterious) |
| Entrez Gene ID | 2737 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GLI3 (GeneCards) |
| Number of variants in GLI3 in this database | 8 (view all the variants) |
| Full name | GLI family zinc finger 3 |
| Band | 7p14.1 |
| Other IDs | Vega: OTTHUMG00000023630 OMIM: 165240 HGNC: HGNC:4319 Ensembl: ENSG00000106571 |
| Other names | PHS, ACLS, GCPS, PAPA, PAPB, PAP-A, PAPA1, PPDIV, GLI3FL, GLI3-190 |
| Summary | This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008] |
| Individual ID | 14708104.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 14708104 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Pallister Hall syndrome (view all the variants in this disease) |
| OMIM ID | 146510 |
| Pubmed ID | 14708104 |
|---|---|
| Title | Gonadal mosaicism in severe Pallister Hall syndrome |
| Journal | American Journal of Medical Genetics |
| Publication date | 2004.01 |
| Disease | Pallister Hall syndrome |
| Number of cases | Female cases: 1; |