| Variant ID | 11410 |
|---|---|
| Entrez Gene ID | 2737 |
| Gene | GLI3 (GeneCards) |
| Location | hg19 7:42558260-42558260
hg38 7:42518661-42518661 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.42558260 C>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0062 |
| CADD Raw score (version 1.3) | 0.674316 (Deleterious) |
| FATHMM raw prediction score | 0.13998 (Tolerated) |
| Deleterious probability by DeFine | 0.2965 (Neutral) |
| 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 | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |