| Variant ID | 25893 |
|---|---|
| Entrez Gene ID | 23379 |
| Gene | ICE1 (GeneCards) |
| Location | hg19 5:6265587-6265587
hg38 5:6265474-6265474 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000005.9:g.6265587 C>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1901 |
| CADD Raw score (version 1.3) | 0.188442 (Deleterious) |
| FATHMM raw prediction score | 0.10955 (Tolerated) |
| Deleterious probability by DeFine | 0.559 (Deleterious) |
| Entrez Gene ID | 23379 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ICE1 (GeneCards) |
| Number of variants in ICE1 in this database | 14 (view all the variants) |
| Full name | interactor of little elongation complex ELL subunit 1 |
| Band | 5p15.32 |
| Other IDs | Vega: OTTHUMG00000161639 OMIM: 617958 HGNC: HGNC:29154 Ensembl: ENSG00000164151 |
| Other names | KIAA0947 |
| Summary | None |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |