| Variant ID | 3716 |
|---|---|
| Entrez Gene ID | 9687 |
| Gene | GREB1 (GeneCards) |
| Location | hg19 2:11681946-11681946
hg38 2:11541820-11541820 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.11681946 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0441 |
| CADD Raw score (version 1.3) | 0.241199 (Deleterious) |
| FATHMM raw prediction score | 0.22463 (Tolerated) |
| Deleterious probability by DeFine | 0.5877 (Deleterious) |
| Entrez Gene ID | 9687 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GREB1 (GeneCards) |
| Number of variants in GREB1 in this database | 3 (view all the variants) |
| Full name | growth regulating estrogen receptor binding 1 |
| Band | 2p25.1 |
| Other IDs | Vega: OTTHUMG00000141276 OMIM: 611736 HGNC: HGNC:24885 Ensembl: ENSG00000196208 |
| Other names | None |
| Summary | This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |