Overview

Variant ID 28660
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)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
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)
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 #1

Individual ID 29217587.02 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID