| Variant ID | 20706 |
|---|---|
| Entrez Gene ID | 23136 |
| Gene | EPB41L3 (GeneCards) |
| Location | hg19 18:5592589-5592589
hg38 18:5592590-5592590 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.5592589 G>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0554 |
| CADD Raw score (version 1.3) | -0.037735 (Deleterious) |
| FATHMM raw prediction score | 0.12855 (Tolerated) |
| Deleterious probability by DeFine | 0.5281 (Deleterious) |
| Entrez Gene ID | 23136 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPB41L3 (GeneCards) |
| Number of variants in EPB41L3 in this database | 4 (view all the variants) |
| Full name | erythrocyte membrane protein band 4.1 like 3 |
| Band | 18p11.31 |
| Other IDs | Vega: OTTHUMG00000131562 OMIM: 605331 HGNC: HGNC:3380 Ensembl: ENSG00000082397 |
| Other names | 4.1B, DAL1, DAL-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; |