| Variant ID | 10049 |
|---|---|
| Entrez Gene ID | 442247 |
| Gene | RFPL4B (GeneCards) |
| Location | hg19 6:113164588-113164588
hg38 6:112843386-112843386 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.113164588 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2956 |
| CADD Raw score (version 1.3) | -0.057215 (Deleterious) |
| FATHMM raw prediction score | 0.07185 (Tolerated) |
| Deleterious probability by DeFine | 0.034 (Neutral) |
| Entrez Gene ID | 442247 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RFPL4B (GeneCards) |
| Number of variants in RFPL4B in this database | 13 (view all the variants) |
| Full name | ret finger protein like 4B |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015390 HGNC: HGNC:33264 Ensembl: ENSG00000251258 |
| Other names | RNF211 |
| Summary | None |
| 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; |