| Variant ID | 15809 |
|---|---|
| Entrez Gene ID | 5962 |
| Gene | RDX (GeneCards) |
| Location | hg19 11:110171889-110171889
hg38 11:110301164-110301164 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.110171889 C>T (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003246 |
|---|---|
| EIGEN score | -0.4203 |
| CADD Raw score (version 1.3) | -0.013163 (Deleterious) |
| FATHMM raw prediction score | 0.04891 (Tolerated) |
| Deleterious probability by DeFine | 0.2073 (Neutral) |
| Entrez Gene ID | 5962 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RDX (GeneCards) |
| Number of variants in RDX in this database | 1 (view all the variants) |
| Full name | radixin |
| Band | 11q22.3 |
| Other IDs | Vega: OTTHUMG00000166574 OMIM: 179410 HGNC: HGNC:9944 Ensembl: ENSG00000137710 |
| Other names | DFNB24 |
| Summary | Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |