| Variant ID | 18162 |
|---|---|
| Entrez Gene ID | 2103 |
| Gene | ESRRB (GeneCards) |
| Location | hg19 14:77085127-77085127
hg38 14:76618784-76618784 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.77085127 A>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4053 |
| CADD Raw score (version 1.3) | -0.147087 (Deleterious) |
| FATHMM raw prediction score | 0.06956 (Tolerated) |
| Deleterious probability by DeFine | 0.2002 (Neutral) |
| Entrez Gene ID | 2103 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ESRRB (GeneCards) |
| Number of variants in ESRRB in this database | 5 (view all the variants) |
| Full name | estrogen related receptor beta |
| Band | 14q24.3 |
| Other IDs | Vega: OTTHUMG00000160457 OMIM: 602167 HGNC: HGNC:3473 Ensembl: ENSG00000119715 |
| Other names | ERR2, ERRb, ESRL2, NR3B2, DFNB35 |
| Summary | This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.07 (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; |