| Variant ID | 10150 |
|---|---|
| Entrez Gene ID | 2037 |
| Gene | EPB41L2 (GeneCards) |
| Location | hg19 6:131193419-131193419
hg38 6:130872279-130872279 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.131193419 G>C (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 | 0.4382 |
| CADD Raw score (version 1.3) | 0.146766 (Deleterious) |
| FATHMM raw prediction score | 0.30992 (Tolerated) |
| Deleterious probability by DeFine | 0.7853 (Deleterious) |
| Entrez Gene ID | 2037 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPB41L2 (GeneCards) |
| Number of variants in EPB41L2 in this database | 6 (view all the variants) |
| Full name | erythrocyte membrane protein band 4.1 like 2 |
| Band | 6q23.1-q23.2 |
| Other IDs | Vega: OTTHUMG00000015560 OMIM: 603237 HGNC: HGNC:3379 Ensembl: ENSG00000079819 |
| Other names | 4.1G, 4.1-G |
| 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; |