| Variant ID | 12152 |
|---|---|
| Entrez Gene ID | 3646 |
| Gene | EIF3E (GeneCards) |
| Location | hg19 8:109407912-109407912
hg38 8:108395683-108395683 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.109407912 A>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0901 |
| CADD Raw score (version 1.3) | 0.294436 (Deleterious) |
| FATHMM raw prediction score | 0.10925 (Tolerated) |
| Deleterious probability by DeFine | 0.5176 (Deleterious) |
| Entrez Gene ID | 3646 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EIF3E (GeneCards) |
| Number of variants in EIF3E in this database | 6 (view all the variants) |
| Full name | eukaryotic translation initiation factor 3 subunit E |
| Band | 8q23.1 |
| Other IDs | Vega: OTTHUMG00000164858 OMIM: 602210 HGNC: HGNC:3277 Ensembl: ENSG00000104408 |
| Other names | INT6, EIF3S6, EIF3-P48, eIF3-p46 |
| Summary | None |
| 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; |