Variant ID | 28660 |
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Entrez Gene ID | 8204 |
Gene | NRIP1 (GeneCards) |
Location | hg19 21:16962394-16962394
hg38 21:15590075-15590075 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000021.8:g.16962394 T>C (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 |
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EIGEN score | 0.0664 |
CADD Raw score (version 1.3) | 0.102658 (Deleterious) |
FATHMM raw prediction score | 0.13944 (Tolerated) |
Deleterious probability by DeFine | 0.4666 (Neutral) |
Entrez Gene ID | 8204 (NCBI Gene) |
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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 | 29217587.02 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |