| Variant ID | 24100 |
|---|---|
| Entrez Gene ID | 8204 |
| Gene | NRIP1 (GeneCards) |
| Location | hg19 21:16674663-16674663
hg38 21:15302344-15302344 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000021.8:g.16674663 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2486 |
| CADD Raw score (version 1.3) | 0.470617 (Deleterious) |
| FATHMM raw prediction score | 0.18871 (Tolerated) |
| Deleterious probability by DeFine | 0.6225 (Deleterious) |
| Entrez Gene ID | 8204 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NRIP1 (GeneCards) |
| Number of variants in NRIP1 in this database | 9 (view all the variants) |
| Full name | nuclear receptor interacting protein 1 |
| Band | 21q11.2-q21.1 |
| Other IDs | Vega: OTTHUMG00000074323 OMIM: 602490 HGNC: HGNC:8001 Ensembl: ENSG00000180530 |
| Other names | RIP140 |
| Summary | Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |