| Variant ID | 22535 |
|---|---|
| Entrez Gene ID | 10561 |
| Gene | IFI44 (GeneCards) |
| Location | hg19 1:79301582-79301582
hg38 1:78835897-78835897 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.79301582 C>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2422 |
| CADD Raw score (version 1.3) | -0.219853 (Deleterious) |
| FATHMM raw prediction score | 0.1067 (Tolerated) |
| Deleterious probability by DeFine | 0.2955 (Neutral) |
| Entrez Gene ID | 10561 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFI44 (GeneCards) |
| Number of variants in IFI44 in this database | 2 (view all the variants) |
| Full name | interferon induced protein 44 |
| Band | 1p31.1 |
| Other IDs | Vega: OTTHUMG00000009723 OMIM: 610468 HGNC: HGNC:16938 Ensembl: ENSG00000137965 |
| Other names | p44, TLDC5, MTAP44 |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |