| Variant ID | 16124 |
|---|---|
| Entrez Gene ID | 3458 |
| Gene | IFNG (GeneCards) |
| Location | hg19 12:68591353-68591353
hg38 12:68197573-68197573 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.68591353 C>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.0017 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs112602079 |
| EIGEN score | -0.1523 |
| CADD Raw score (version 1.3) | -0.015699 (Deleterious) |
| FATHMM raw prediction score | 0.06961 (Tolerated) |
| Deleterious probability by DeFine | 0.3308 (Neutral) |
| Entrez Gene ID | 3458 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFNG (GeneCards) |
| Number of variants in IFNG in this database | 2 (view all the variants) |
| Full name | interferon gamma |
| Band | 12q15 |
| Other IDs | Vega: OTTHUMG00000169113 OMIM: 147570 HGNC: HGNC:5438 Ensembl: ENSG00000111537 |
| Other names | IFG, IFI |
| Summary | This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |