Overview

Variant ID 28087
Entrez Gene ID 6095
Gene RORA (GeneCards)
Location hg19 15:61823749-61823749
hg38 15:61531550-61531550
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000015.9:g.61823749 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 102531392

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.1096
CADD Raw score (version 1.3) 0.119896 (Deleterious)
FATHMM raw prediction score 0.18124 (Tolerated)
Deleterious probability by DeFine 0.4507 (Neutral)
Entrez Gene ID 6095 (NCBI Gene)
Official Gene Symbol RORA (GeneCards)
Number of variants in RORA in this database 19 (view all the variants)
Full name RAR related orphan receptor A
Band 15q22.2
Other IDs Vega: OTTHUMG00000132769
OMIM: 600825
HGNC: HGNC:10258
Ensembl: ENSG00000069667
Other names ROR1, ROR2, ROR3, RZRA, NR1F1, RZR-ALPHA
Summary The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID