| Variant ID | 7203 |
|---|---|
| Entrez Gene ID | 7363 |
| Gene | UGT2B4 (GeneCards) |
| Location | hg19 4:70423791-70423791
hg38 4:69558073-69558073 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.70423791 T>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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5747 |
| CADD Raw score (version 1.3) | 0.92812 (Deleterious) |
| FATHMM raw prediction score | 0.92138 (Tolerated) |
| Deleterious probability by DeFine | 0.3598 (Neutral) |
| Entrez Gene ID | 7363 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UGT2B4 (GeneCards) |
| Number of variants in UGT2B4 in this database | 2 (view all the variants) |
| Full name | UDP glucuronosyltransferase family 2 member B4 |
| Band | 4q13.3 |
| Other IDs | Vega: OTTHUMG00000058891 OMIM: 600067 HGNC: HGNC:12553 Ensembl: ENSG00000156096 |
| Other names | HLUG25, UDPGTH1, UGT2B11, UDPGT2B4, UDPGTh-1 |
| Summary | None |
| Individual ID | 29217584.19 (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; |