| Variant ID | 2432 |
|---|---|
| Entrez Gene ID | 25896 |
| Gene | INTS7 (GeneCards) |
| Location | hg19 1:212190093-212190093
hg38 1:212016751-212016751 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.212190093 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.1365 |
| CADD Raw score (version 1.3) | -0.081208 (Deleterious) |
| FATHMM raw prediction score | 0.12455 (Tolerated) |
| Deleterious probability by DeFine | 0.4866 (Neutral) |
| Entrez Gene ID | 25896 (NCBI Gene) |
|---|---|
| Official Gene Symbol | INTS7 (GeneCards) |
| Number of variants in INTS7 in this database | 3 (view all the variants) |
| Full name | integrator complex subunit 7 |
| Band | 1q32.3 |
| Other IDs | Vega: OTTHUMG00000037119 OMIM: 611350 HGNC: HGNC:24484 Ensembl: ENSG00000143493 |
| Other names | INT7, C1orf73 |
| Summary | This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] |
| Individual ID | 29217584.13 (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; |