| Variant ID | 13641 |
|---|---|
| Entrez Gene ID | 169792 |
| Gene | GLIS3 (GeneCards) |
| Location | hg19 9:4123048-4123048
hg38 9:4123048-4123048 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.4123048 G>T (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0817 |
| CADD Raw score (version 1.3) | 0.193816 (Deleterious) |
| FATHMM raw prediction score | 0.0941 (Tolerated) |
| Deleterious probability by DeFine | 0.4509 (Neutral) |
| Entrez Gene ID | 169792 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GLIS3 (GeneCards) |
| Number of variants in GLIS3 in this database | 4 (view all the variants) |
| Full name | GLIS family zinc finger 3 |
| Band | 9p24.2 |
| Other IDs | Vega: OTTHUMG00000019463 OMIM: 610192 HGNC: HGNC:28510 Ensembl: ENSG00000107249 |
| Other names | NDH, ZNF515 |
| Summary | This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |