| Variant ID | 5930 |
|---|---|
| Entrez Gene ID | 53833 |
| Gene | IL20RB (GeneCards) |
| Location | hg19 3:136929727-136929727
hg38 3:137210885-137210885 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.136929727 G>A (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.074 |
| CADD Raw score (version 1.3) | -0.024095 (Deleterious) |
| FATHMM raw prediction score | 0.12958 (Tolerated) |
| Deleterious probability by DeFine | 0.5112 (Deleterious) |
| Entrez Gene ID | 53833 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IL20RB (GeneCards) |
| Number of variants in IL20RB in this database | 9 (view all the variants) |
| Full name | interleukin 20 receptor subunit beta |
| Band | 3q22.3 |
| Other IDs | Vega: OTTHUMG00000159779 OMIM: 605621 HGNC: HGNC:6004 Ensembl: ENSG00000174564 |
| Other names | DIRS1, FNDC6, IL-20R2 |
| Summary | IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009] |
| Individual ID | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |